A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2382n54



Internal ID22770277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11422636..11558756hg38UCSC Ensembl
chr12:11575570..11711690hg19UCSC Ensembl
chr12:11466837..11602957hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38136121
hg19136121
hg18136121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557573, nsv557572
SamplesHGDP00511, HGDP00532
Known GenesLOC338817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2382n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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