A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751054



Internal ID12637920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31072776..31360784hg38UCSC Ensembl
Innerchr12:31225710..31513718hg19UCSC Ensembl
Innerchr12:31116977..31404985hg18UCSC Ensembl
Innerchr12:31116977..31404985hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38288009
hg19288009
hg18288009
hg17288009
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv63e55
Supporting Variantsessv6984348, essv6984350, essv6984349
SamplesBEC_693
Known GenesDDX11, DDX11-AS1, 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)esv2751054
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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