A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11254n54



Internal ID19003430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30910949..30915752hg38UCSC Ensembl
chr7:30950564..30955367hg19UCSC Ensembl
chr7:30917089..30921892hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg384804
hg194804
hg184804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606512, nsv606511
Samples
Known GenesAQP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11254n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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