A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750978



Internal ID12637844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:104094062..105475331hg38UCSC Ensembl
Innerchr11:103964790..105346058hg19UCSC Ensembl
Innerchr11:103470000..104851268hg18UCSC Ensembl
Innerchr11:103470000..104851268hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg381381270
hg191381269
hg181381269
hg171381269
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984833, essv6984835, essv6984831, essv6984834, essv6984832
SamplesSPC_183
Known GenesCARD16, CARD17, CARD18, CASP1, CASP12, CASP4, CASP5, LOC643733, 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)esv2750978
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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