A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7004n54



Internal ID20140428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110114088..110228972hg38UCSC Ensembl
chr2:110871665..110986549hg19UCSC Ensembl
chr2:110228954..110343838hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38114885
hg19114885
hg18114885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv582686, nsv582687, nsv582683, nsv582682, nsv582684, nsv582690
SamplesHGDP00757, NINDS_37, HGDP01027, HGDP01271, HGDP00556, NINDS_271, HGDP00665
Known GenesLINC00116, MALL, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7004n54
Frequency
Sample Size17421
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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