A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984176



Internal ID12631130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:132941308..133422481hg38UCSC Ensembl
Innerchr11:132811203..133292376hg19UCSC Ensembl
Innerchr11:132316413..132797586hg18UCSC Ensembl
Innerchr11:132316413..132797586hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38481174
hg19481174
hg18481174
hg17481174
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750982
Supporting Variants
SamplesBEC_795
Known GenesOPCML
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984176
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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