A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985423



Internal ID12635532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131340569..131481227hg38UCSC Ensembl
Innerchr2:132098142..132238800hg19UCSC Ensembl
Innerchr2:131814612..131955270hg18UCSC Ensembl
Innerchr2:131931874..132072532hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38140659
hg19140659
hg18140659
hg17140659
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)essv6985423
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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