A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634468



Internal ID7021271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49701681..49710803hg38UCSC Ensembl
chr14:50168399..50177521hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg389123
hg199123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15005252, essv15005253
SamplesHG03452, HG03729
Known GenesKLHDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634468
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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