A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750982



Internal ID12637848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:132940895..133422481hg38UCSC Ensembl
Innerchr11:132810790..133292376hg19UCSC Ensembl
Innerchr11:132316000..132797586hg18UCSC Ensembl
Innerchr11:132316000..132797586hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38481587
hg19481587
hg18481587
hg17481587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv54e55
Supporting Variantsessv6984177, essv6987517, essv6987516, essv6984176, essv6984178
SamplesBEC_795
Known GenesOPCML
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)esv2750982
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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