A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990360



Internal ID12633437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37463949..38563500hg38UCSC Ensembl
Innerchr12:37857751..38957302hg19UCSC Ensembl
Innerchr12:36144018..37243569hg18UCSC Ensembl
Innerchr12:36144018..37243569hg17UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg381099552
hg191099552
hg181099552
hg171099552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34542
Supporting Variants
SamplesNA18547
Known GenesALG10B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990360
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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