A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34504



Internal ID12990541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:24156918..24321183hg38UCSC Ensembl
Innerchr19:24339720..24503985hg19UCSC Ensembl
Innerchr19:24131560..24295825hg18UCSC Ensembl
Innerchr19:24131560..24295825hg17UCSC Ensembl
Cytoband19p11
Allele length
AssemblyAllele length
hg38164266
hg19164266
hg18164266
hg17164266
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986946, essv6979792, essv6979793
SamplesNA18632
Known GenesHAVCR1P1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34504
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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