A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10184n54



Internal ID20143608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177357511..177469411hg38UCSC Ensembl
chr5:176784512..176896412hg19UCSC Ensembl
chr5:176717118..176829018hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38111901
hg19111901
hg18111901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv600365, nsv600366
SamplesHGDP00614, 1780862021_A
Known GenesDBN1, F12, GRK6, PFN3, PRR7, PRR7-AS1, RGS14, SLC34A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10184n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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