A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11272n54



Internal ID22779167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:33092117..33156742hg38UCSC Ensembl
chr7:33131729..33196354hg19UCSC Ensembl
chr7:33098254..33162879hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3864626
hg1964626
hg1864626
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606609, nsv606606, nsv606607, nsv606608
SamplesHGDP00885, 1780862408_A
Known GenesBBS9, RP9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11272n54
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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