A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8227n54



Internal ID22776122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12582571..12776123hg38UCSC Ensembl
chr3:12624070..12817622hg19UCSC Ensembl
chr3:12599070..12792622hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38193553
hg19193553
hg18193553
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv589705, nsv589708, nsv589706, nsv589704, nsv589707, nsv589711, nsv589709, nsv589710, nsv589701, nsv589702, nsv589703
SamplesHGDP00860, HGDP00708, HGDP00706, HGDP00707, HGDP01019, HGDP01018
Known GenesMKRN2, RAF1, TMEM40
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8227n54
Frequency
Sample Size17421
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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