A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978197



Internal ID12634901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131323695..131508695hg38UCSC Ensembl
Innerchr2:132081268..132266268hg19UCSC Ensembl
Innerchr2:131797738..131982738hg18UCSC Ensembl
Innerchr2:131915000..132100000hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38185001
hg19185001
hg18185001
hg17185001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34704
Supporting Variants
SamplesNA18976
Known GenesLINC01120, LOC150776, LOC401010, MIR4784, MZT2A, RNU6-81P, TUBA3D, WTH3DI
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978197
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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