A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3747n100



Internal ID20155363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31378589..31643808hg38UCSC Ensembl
chr2:31601455..31868877hg19UCSC Ensembl
chr2:31454959..31722381hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38265220
hg19267423
hg18267423
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998853, nsv1005565
Samples
Known GenesSRD5A2, XDH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3747n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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