A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616693



Internal ID7003579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25824360..25826115hg38UCSC Ensembl
Innerchr8:25824360..25826115hg38UCSC Ensembl
Outerchr8:25824085..25826428hg38UCSC Ensembl
chr8:25681876..25683631hg19UCSC Ensembl
Innerchr8:25681876..25683631hg19UCSC Ensembl
Outerchr8:25681601..25683944hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg381756
hg191756
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13147715, essv13147716, essv13147706, essv13147707, essv13147712, essv13147709, essv13147717, essv13147705, essv13147704, essv13147713, essv13147702, essv13147703, essv13147708, essv13147710, essv13147714, essv13147711
SamplesHG03518, HG03082, HG02325, HG03479, NA19189, NA19921, HG02479, HG03081, HG02429, NA19206, NA18517, HG02814, HG03565, NA19468, HG03279, NA19474
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616693
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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