A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751071



Internal ID12637937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31086666..31340501hg38UCSC Ensembl
Innerchr12:31239600..31493435hg19UCSC Ensembl
Innerchr12:31130867..31384702hg18UCSC Ensembl
Innerchr12:31130867..31384702hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38253836
hg19253836
hg18253836
hg17253836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv63e55
Supporting Variantsessv6987571, essv6984357
SamplesBEC_694
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)esv2751071
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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