A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6700n54



Internal ID22774595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:13051151..13148893hg38UCSC Ensembl
chr2:13191276..13289018hg19UCSC Ensembl
chr2:13108727..13206469hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3897743
hg1997743
hg1897743
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581008, nsv581009, nsv581011, nsv581012, nsv581010
SamplesHGDP01379, HGDP01274, HGDP01266, HGDP01072, HGDP01272, NINDS_222, HGDP01280, 1788485588_A, HGDP00966
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6700n54
Frequency
Sample Size17421
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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