A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980884



Internal ID12635536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131340695..131481695hg38UCSC Ensembl
Innerchr2:132098268..132239268hg19UCSC Ensembl
Innerchr2:131814738..131955738hg18UCSC Ensembl
Innerchr2:131932000..132073000hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38141001
hg19141001
hg18141001
hg17141001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34412
Supporting Variants
SamplesNA19140
Known GenesLINC01120, LOC401010, RNU6-81P, TUBA3D, WTH3DI
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980884
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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