A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612503



Internal ID6999404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:21368693..21370743hg38UCSC Ensembl
Innerchr7:21368693..21370743hg38UCSC Ensembl
Outerchr7:21368454..21371006hg38UCSC Ensembl
chr7:21408311..21410361hg19UCSC Ensembl
Innerchr7:21408311..21410361hg19UCSC Ensembl
Outerchr7:21408072..21410624hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg382051
hg192051
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12693824, essv12693822, essv12693825, essv12693812, essv12693816, essv12693814, essv12693818, essv12693813, essv12693817, essv12693821, essv12693827, essv12693820, essv12693826, essv12693819, essv12693815, essv12693823
SamplesHG02583, HG02702, NA19374, HG02634, HG03583, HG03048, HG03160, NA19403, HG01879, HG02722, NA19435, HG02837, HG03473, NA19438, HG03401, HG01914
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612503
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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