A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34754



Internal ID12990790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:67707799..67823086hg38UCSC Ensembl
Innerchr6:68417692..68532979hg19UCSC Ensembl
Innerchr6:68474413..68589700hg18UCSC Ensembl
Innerchr6:68474413..68589700hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38115288
hg19115288
hg18115288
hg17115288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978753, essv6986696, essv6978752
SamplesNA12234
Known Genes
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)esv34754
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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