A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751045



Internal ID12637911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31018094..31257399hg38UCSC Ensembl
Innerchr12:31171028..31410333hg19UCSC Ensembl
Innerchr12:31062295..31301600hg18UCSC Ensembl
Innerchr12:31062295..31301600hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38239306
hg19239306
hg18239306
hg17239306
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv61e55
Supporting Variantsessv6985916, essv6988960, essv6985917
SamplesSPC_85
Known GenesDDX11, DDX11-AS1
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)esv2751045
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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