A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3750n100



Internal ID20155366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32540323..32690290hg38UCSC Ensembl
chr2:32765390..32915357hg19UCSC Ensembl
chr2:32618894..32768861hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38149968
hg19149968
hg18149968
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005682, nsv1006519
Samples
Known GenesBIRC6, MIR4765, TTC27
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3750n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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