A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34412



Internal ID12643765
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 StatusM
Merged Variants
Supporting Variantsessv6985423, essv6980883, essv6980884
SamplesNA19140
Known GenesLINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MZT2A, POTEE, RNU6-81P, TUBA3D, WTH3DI
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34412
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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