A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12617302



Internal ID2619118
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611453
Supporting Variants
SamplesHG00339
Known GenesAGPAT4, MAP3K4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12617302
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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