A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7336n54



Internal ID20140760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232336618..232458467hg38UCSC Ensembl
chr2:233201328..233323177hg19UCSC Ensembl
chr2:232909572..233031421hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38121850
hg19121850
hg18121850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584684, nsv584680, nsv584688, nsv584682, nsv584689
Samples1780862431_A, HGDP00977, HGDP00799
Known GenesALPI, ALPP, ALPPL2, DIS3L2, ECEL1P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7336n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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