A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15005251



Internal ID5007067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49668611..49697878hg38UCSC Ensembl
chr14:50135329..50164596hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3829268
hg1929268
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634467
Supporting Variants
SamplesHG03729
Known GenesKLHDC1, POLE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15005251
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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