A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616606



Internal ID6656802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22331109..22334459hg38UCSC Ensembl
Innerchr8:22331159..22334374hg38UCSC Ensembl
Outerchr8:22330953..22334615hg38UCSC Ensembl
chr8:22188622..22191972hg19UCSC Ensembl
Innerchr8:22188672..22191887hg19UCSC Ensembl
Outerchr8:22188466..22192128hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg383351
hg193351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13133467, essv13133472, essv13133459, essv13133465, essv13133469, essv13133473, essv13133471, essv13133468, essv13133462, essv13133464, essv13133461, essv13133466, essv13133463, essv13133460, essv13133470
SamplesNA19026, HG03563, NA19310, HG01883, HG03298, HG02420, NA19314, HG03472, HG02281, NA18909, NA18864, NA19749, HG02051, HG02332, NA19468
Known GenesPIWIL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616606
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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