A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35092



Internal ID12644442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31086666..31331899hg38UCSC Ensembl
Innerchr12:31239600..31484833hg19UCSC Ensembl
Innerchr12:31130867..31376100hg18UCSC Ensembl
Innerchr12:31130867..31376100hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38245234
hg19245234
hg18245234
hg17245234
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv63e55
Supporting Variantsessv6978483, essv6986630, essv6978482
SamplesNA19119
Known GenesDDX11, FAM60A, FLJ13224
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)esv35092
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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