A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv132n100



Internal ID20151748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24981181..25393108hg38UCSC Ensembl
chr1:25307672..25719599hg19UCSC Ensembl
chr1:25180259..25592186hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38411928
hg19411928
hg18411928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010673, nsv1000112, nsv1005598
Samples
Known GenesC1orf63, RHCE, RHD, SYF2, TMEM50A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv132n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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