A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6788n54



Internal ID22774683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38148887..38177244hg38UCSC Ensembl
chr2:38376029..38404386hg19UCSC Ensembl
chr2:38229533..38257890hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3828358
hg1928358
hg1828358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581478, nsv581479
Samples
Known GenesCYP1B1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6788n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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