A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2339n54



Internal ID18994515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8168452..8446801hg38UCSC Ensembl
chr12:8321048..8599397hg19UCSC Ensembl
chr12:8212315..8490664hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38278350
hg19278350
hg18278350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557332, nsv557333
Samples
Known GenesFAM66C, FAM86FP, FAM90A1, LINC00937, ZNF705A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2339n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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