A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7080n54



Internal ID22774975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130185940..130390535hg38UCSC Ensembl
chr2:130943513..131148108hg19UCSC Ensembl
chr2:130659983..130864578hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38204596
hg19204596
hg18204596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv583116, nsv583115, nsv583117
SamplesHGDP01241, HGDP01328, HGDP00716
Known GenesCCDC115, IMP4, MZT2B, PTPN18, TUBA3E
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7080n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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