A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11256n54



Internal ID19003432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30915184..30916233hg38UCSC Ensembl
chr7:30954799..30955848hg19UCSC Ensembl
chr7:30921324..30922373hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381050
hg191050
hg181050
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606518, nsv606519
Samples
Known GenesAQP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11256n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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