A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617244



Internal ID7004130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53844240..53845310hg38UCSC Ensembl
Innerchr8:53844240..53845310hg38UCSC Ensembl
Outerchr8:53843985..53845532hg38UCSC Ensembl
chr8:54756800..54757870hg19UCSC Ensembl
Innerchr8:54756800..54757870hg19UCSC Ensembl
Outerchr8:54756545..54758092hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg381071
hg191071
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13203176, essv13203185, essv13203177, essv13203184, essv13203182, essv13203183, essv13203180, essv13203178, essv13203175, essv13203179, essv13203187, essv13203181, essv13203188, essv13203186
SamplesNA19703, HG03517, NA20294, HG03133, NA19457, HG03209, HG02885, HG03583, HG01248, NA19437, HG03397, NA19308, HG02501, HG03469
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617244
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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