A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990363



Internal ID12980170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:115781441..115979132hg38UCSC Ensembl
Innerchr2:116539017..116736708hg19UCSC Ensembl
Innerchr2:116255487..116453178hg18UCSC Ensembl
Innerchr2:116255247..116452938hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38197692
hg19197692
hg18197692
hg17197692
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35070
Supporting Variants
SamplesNA18552
Known GenesDPP10
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990363
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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