A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12643397



Internal ID2645213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167156028..167313697hg38UCSC Ensembl
chr6:167569516..167727185hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38157670
hg19157670
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611651
Supporting Variants
SamplesNA12004
Known GenesGPR31, TCP10L2, UNC93A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12643397
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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