A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984831



Internal ID12636902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:104094062..105475063hg38UCSC Ensembl
Innerchr11:103964790..105345790hg19UCSC Ensembl
Innerchr11:103470000..104851000hg18UCSC Ensembl
Innerchr11:103470000..104851000hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg381381002
hg191381001
hg181381001
hg171381001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750978
Supporting Variants
SamplesSPC_183
Known GenesCARD16, CARD17, CARD18, CASP1, CASP12, CASP4, CASP5, LOC643733, PDGFD
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984831
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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