A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10660n54



Internal ID20144084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51871377..51871918hg38UCSC Ensembl
chr6:51736175..51736716hg19UCSC Ensembl
chr6:51844134..51844675hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38542
hg19542
hg18542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv603105, nsv603103
Samples
Known GenesPKHD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10660n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss594
Observed Complex0
Frequencyn/a


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