A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663429



Internal ID9929534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61496854..61517326hg38UCSC Ensembl
chr14:61963572..61984044hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3820473
hg1920473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6437523, essv5517417, essv5949600
SamplesNA19399, NA19625, NA19900
Known GenesPRKCH
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663429
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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