A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6752n54



Internal ID20140176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32999538..33002120hg38UCSC Ensembl
chr2:33224605..33227187hg19UCSC Ensembl
chr2:33078109..33080691hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382583
hg192583
hg182583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581307, nsv581293, nsv581302, nsv581300, nsv581301
Samples
Known GenesLTBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6752n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss183
Observed Complex0
Frequencyn/a


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