A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751050



Internal ID12637916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31072776..31253973hg38UCSC Ensembl
Innerchr12:31225710..31406907hg19UCSC Ensembl
Innerchr12:31116977..31298174hg18UCSC Ensembl
Innerchr12:31116977..31298174hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38181198
hg19181198
hg18181198
hg17181198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv62e55
Supporting Variantsessv6987150, essv6985079, essv6985080, essv6985081
SamplesBEC_94
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)esv2751050
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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