A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6796n54



Internal ID22774691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40578287..40621505hg38UCSC Ensembl
chr2:40805427..40848645hg19UCSC Ensembl
chr2:40658931..40702149hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3843219
hg1943219
hg1843219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581506, nsv581505
SamplesHGDP01237
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6796n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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