A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7379n54



Internal ID22775274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240923534..240924750hg38UCSC Ensembl
chr2:241862951..241864167hg19UCSC Ensembl
chr2:241511624..241512840hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381217
hg191217
hg181217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584894, nsv584906, nsv584908, nsv584893, nsv584905, nsv584913, nsv584912
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7379n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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