A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617851



Internal ID7004735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:84178267..84181701hg38UCSC Ensembl
Innerchr8:84178267..84181701hg38UCSC Ensembl
Outerchr8:84178161..84181986hg38UCSC Ensembl
chr8:85090502..85093936hg19UCSC Ensembl
Innerchr8:85090502..85093936hg19UCSC Ensembl
Outerchr8:85090396..85094221hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg383435
hg193435
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13243729, essv13243714, essv13243728, essv13243718, essv13243715, essv13243731, essv13243727, essv13243736, essv13243720, essv13243725, essv13243735, essv13243721, essv13243730, essv13243723, essv13243716, essv13243733, essv13243726, essv13243719, essv13243724, essv13243717, essv13243734, essv13243737, essv13243722, essv13243732
SamplesHG01985, HG02973, NA19020, NA19355, HG02536, NA19131, NA18498, NA19038, NA19922, HG03209, NA19036, HG02946, HG02427, NA19327, NA19913, HG03294, HG02555, HG03567, NA19019, NA19144, HG01260, NA19900, NA19146, NA19429
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617851
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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