A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980883



Internal ID12635525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131197674..131493393hg38UCSC Ensembl
Innerchr2:131955247..132250966hg19UCSC Ensembl
Innerchr2:131671717..131967436hg18UCSC Ensembl
Innerchr2:131788979..132084698hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38295720
hg19295720
hg18295720
hg17295720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34412
Supporting Variants
SamplesNA19140
Known GenesLINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MZT2A, POTEE, RNU6-81P, TUBA3D, WTH3DI
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980883
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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