A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1158n54



Internal ID20134582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:54487871..54526308hg38UCSC Ensembl
chr10:56247631..56286068hg19UCSC Ensembl
chr10:55917637..55956074hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3838438
hg1938438
hg1838438
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv550965, nsv550964
SamplesHGDP00157
Known GenesPCDH15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1158n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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