A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750977



Internal ID12637843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:103211829..104054062hg38UCSC Ensembl
Innerchr11:103082558..103924790hg19UCSC Ensembl
Innerchr11:102587768..103430000hg18UCSC Ensembl
Innerchr11:102587768..103430000hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38842234
hg19842233
hg18842233
hg17842233
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984911, essv6984909, essv6987711, essv6984910, essv6987712
SamplesSPC_193
Known GenesDDI1, DYNC2H1, MIR4693, PDGFD
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)esv2750977
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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