A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619111



Internal ID7005991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143449727..143452631hg38UCSC Ensembl
Innerchr8:143449751..143452607hg38UCSC Ensembl
Outerchr8:143449703..143452655hg38UCSC Ensembl
chr8:144531897..144534801hg19UCSC Ensembl
Innerchr8:144531921..144534777hg19UCSC Ensembl
Outerchr8:144531873..144534825hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382905
hg192905
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13364624, essv13364627, essv13364623, essv13364629, essv13364626, essv13364625, essv13364628
SamplesHG03629, NA21117, HG00237, NA20902, HG01756, HG04153, HG03698
Known GenesZC3H3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619111
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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