A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2618n54



Internal ID22770513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49961546..49964685hg38UCSC Ensembl
chr12:50355329..50358468hg19UCSC Ensembl
chr12:48641596..48644735hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383140
hg193140
hg183140
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558839, nsv558838
Samples
Known GenesAQP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2618n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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