A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984832



Internal ID12636909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:104166130..105430752hg38UCSC Ensembl
Innerchr11:104036858..105301479hg19UCSC Ensembl
Innerchr11:103542068..104806689hg18UCSC Ensembl
Innerchr11:103542068..104806689hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg381264623
hg191264622
hg181264622
hg171264622
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)essv6984832
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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