A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984834



Internal ID12636911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:104176062..105418063hg38UCSC Ensembl
Innerchr11:104046790..105288790hg19UCSC Ensembl
Innerchr11:103552000..104794000hg18UCSC Ensembl
Innerchr11:103552000..104794000hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg381242002
hg191242001
hg181242001
hg171242001
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
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984834
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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