A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34515



Internal ID12990552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:63013436..63139869hg38UCSC Ensembl
Innerchr6:63723341..63849774hg19UCSC Ensembl
Innerchr6:63781300..63907733hg18UCSC Ensembl
Innerchr6:63781300..63907733hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38126434
hg19126434
hg18126434
hg17126434
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980162, essv6980161, essv6987022, essv6980160
SamplesNA18965
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34515
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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