A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751056



Internal ID12637922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31086666..31253875hg38UCSC Ensembl
Innerchr12:31239600..31406809hg19UCSC Ensembl
Innerchr12:31130867..31298076hg18UCSC Ensembl
Innerchr12:31130867..31298076hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38167210
hg19167210
hg18167210
hg17167210
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv62e55
Supporting Variantsessv6988610, essv6982985, essv6986312
SamplesBEC_531
Known GenesDDX11
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)esv2751056
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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