A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617736



Internal ID7004621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78633056..78636252hg38UCSC Ensembl
Innerchr8:78633106..78636192hg38UCSC Ensembl
Outerchr8:78632836..78636472hg38UCSC Ensembl
chr8:79545291..79548487hg19UCSC Ensembl
Innerchr8:79545341..79548427hg19UCSC Ensembl
Outerchr8:79545071..79548707hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg383197
hg193197
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13237185, essv13237174, essv13237182, essv13237164, essv13237180, essv13237176, essv13237173, essv13237161, essv13237181, essv13237177, essv13237156, essv13237171, essv13237160, essv13237168, essv13237165, essv13237172, essv13237184, essv13237158, essv13237155, essv13237169, essv13237167, essv13237170, essv13237187, essv13237183, essv13237179, essv13237162, essv13237157, essv13237159, essv13237178, essv13237186, essv13237175, essv13237163, essv13237166
SamplesHG01985, HG01188, NA19355, NA18510, NA20291, HG01069, HG01067, HG02634, NA19207, NA19385, NA19036, NA20412, HG03048, HG02879, HG01879, HG02322, HG03027, HG03301, NA19114, HG03024, NA19395, HG01988, HG02613, NA19321, HG02759, HG02982, NA19324, NA19102, HG02425, NA18522, NA19429, HG01061, HG03166
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617736
Frequency
Sample Size2504
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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