A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13375491



Internal ID6629494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:642261..819008hg38UCSC Ensembl
chr9:642261..819008hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38176748
hg19176748
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619219
Supporting Variants
SamplesNA20792
Known GenesKANK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13375491
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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