A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34493



Internal ID12643844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232306777..232447741hg38UCSC Ensembl
Innerchr2:233171487..233312451hg19UCSC Ensembl
Innerchr2:232879731..233020695hg18UCSC Ensembl
Innerchr2:232996992..233137956hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38140965
hg19140965
hg18140965
hg17140965
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979762, essv6986934, essv6979761
SamplesNA18622
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
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)esv34493
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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