A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2349n54



Internal ID22770244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9452687..9585474hg38UCSC Ensembl
chr12:9605283..9738070hg19UCSC Ensembl
chr12:9496550..9629337hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38132788
hg19132788
hg18132788
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557404, nsv557408, nsv557400, nsv557409, nsv557410, nsv557407, nsv557406, nsv557398, nsv557399, nsv557396, nsv557403, nsv557425, nsv557402, nsv557424, nsv557401
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2349n54
Frequency
Sample Size17421
Observed Gain106
Observed Loss0
Observed Complex0
Frequencyn/a


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