A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6842n54



Internal ID20140266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45413667..45414790hg38UCSC Ensembl
chr2:45640806..45641929hg19UCSC Ensembl
chr2:45494310..45495433hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381124
hg191124
hg181124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581715, nsv581714
Samples
Known GenesSRBD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6842n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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