A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611453



Internal ID6651672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160930783..161147021hg38UCSC Ensembl
Innerchr6:160930933..161146871hg38UCSC Ensembl
Outerchr6:160930633..161147171hg38UCSC Ensembl
chr6:161351815..161568053hg19UCSC Ensembl
Innerchr6:161351965..161567903hg19UCSC Ensembl
Outerchr6:161351665..161568203hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38216239
hg19216239
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12617302, essv12617301
SamplesHG00277, HG00339
Known GenesAGPAT4, MAP3K4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611453
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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