Available Downloads

GRCh37

• GRCh37_2016-03_dgv.gff.gz
• GRCh37_2016-03_dgv.gff.gz.tbi
• cytoBand_GRCh37.txt
• GRCh37_220307_refseq.sorted.gff.gz.tbi
• GRCh37_220307_refseq.sorted.gff.gz
• GRCh37_refseq.sorted.gff.gz
• GRCh37_refseq.sorted.gff.gz.2021-04-08
• GRCh37_refseq.sorted.gff.gz.tbi
• GRCh37_refseq.sorted.gff.gz.tbi.2021-04-08
• GRCh37.fa
• GRCh37.fa.fai
• GRCh37_CpG_200bp_IGV.bedGraph
• GRCh37_Gencode_CDS_Levels1_2_IGV.bed
• GRCh37_RefSeq_CDS_IGV.bed
• GRCh37_RefSeqFE_IGV.bed
• GRCh37_CpG_regions_IGV.bed
• GRCh37_gnomad_v2.1_sv.sites.bed.gz
• GRCh37_gnomad_v2.1_sv.sites.bed.gz.tbi
• GRCh37_nstd102.variant_call.bed.gz
• GRCh37_nstd102.variant_call.bed.gz.tbi
• GRCh37_decipher_CNV.bed.gz
• GRCh37_decipher_CNV.bed.gz.tbi
• GRCh37_ClinGen_region_curation_list.bed.gz
• GRCh37_ClinGen_region_curation_list.bed.gz.tbi

GRCh38

• GRCh38_2016-05_dgv.gff.gz
• GRCh38_2016-05_dgv.gff.gz.tbi
• cytoBand_GRCh38.txt
• GRCh38_20211119_refseq.sorted.gff.gz
• GRCh38_20211119_refseq.sorted.gff.gz.tbi
• GRCh38_refseq.sorted.gff.gz
• GRCh38_refseq.sorted.gff.gz.tbi
• GRCh38.fa
• GRCh38.fa.fai
• GRCh38_CpG_200bp_IGV.bedGraph
• GRCh38_Gencode_CDS_Levels1_2_IGV.bed
• GRCh38_RefSeq_CDS_IGV.bed
• GRCh38_CpG_regions_IGV.bed
• GRCh38_RefSeqFE_IGV.bed
• GRCh38_gnomad.v4.1.sv.sites.bed.gz
• GRCh38_gnomad.v4.1.sv.sites.bed.gz.tbi
• GRCh38_nstd102.variant_call.bed.gz
• GRCh38_nstd102.variant_call.bed.gz.tbi
• GRCh38_decipher_CNV.bed.gz
• GRCh38_decipher_CNV.bed.gz.tbi
• GRCh38_ClinGen_region_curation_list.bed.gz
• GRCh38_ClinGen_region_curation_list.bed.gz.tbi
• GRCh38_omim.phenotypes.bed.gz
• GRCh38_omim.phenotypes.bed.gz.tbi

SDS

• sds-1-8-1.zip
• SDS-1-10-1.7z

User Guide

• SEQ-027_IFU_CZ_V5.pdf
• SEQ-027_IFU_EN_V5.pdf
• SEQ-027_IFU_ES_V5.pdf
• SEQ-027_IFU_FR_V5.pdf
• SEQ-027_IFU_HU_V5.pdf
• SEQ-027_IFU_IT_V5.pdf
• SEQ-027_IFU_PT_V5.pdf
• SEQ-039_RUO_UG_EN_V5.pdf
• SEQ-027_IFU_SK_V5.pdf