A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986862



Internal ID12980172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:115781194..115918194hg38UCSC Ensembl
Innerchr2:116538770..116675770hg19UCSC Ensembl
Innerchr2:116255240..116392240hg18UCSC Ensembl
Innerchr2:116255000..116392000hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38137001
hg19137001
hg18137001
hg17137001
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)essv6986862
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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