A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7083n54



Internal ID20140507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130236250..130440530hg38UCSC Ensembl
chr2:130993823..131198103hg19UCSC Ensembl
chr2:130710293..130914573hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38204281
hg19204281
hg18204281
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv583131, nsv583130
Samples
Known GenesCCDC115, CYP4F62P, FAR2P2, IMP4, PTPN18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7083n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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