A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34434



Internal ID12643787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:114144141..115141635hg38UCSC Ensembl
Innerchr6:114465305..115462799hg19UCSC Ensembl
Innerchr6:114571998..115569492hg18UCSC Ensembl
Innerchr6:114571998..115569492hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38997495
hg19997495
hg18997495
hg17997495
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978400, essv6978399, essv6978398, essv6986607, essv6978401
SamplesNA19092
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)esv34434
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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