A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11255n54



Internal ID19003431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30914199..30916530hg38UCSC Ensembl
chr7:30953814..30956145hg19UCSC Ensembl
chr7:30920339..30922670hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg382332
hg192332
hg182332
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606517, nsv606515, nsv606516
Samples
Known GenesAQP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11255n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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