A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634466



Internal ID6674583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49643688..49728973hg38UCSC Ensembl
chr14:50110406..50195691hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3885286
hg1985286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15005250
SamplesHG03729
Known GenesKLHDC1, POLE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634466
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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