A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15093254



Internal ID5095070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90134736..90143735hg38UCSC Ensembl
chr14:90601080..90610079hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg389000
hg199000
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635306
Supporting Variants
SamplesNA20877
Known GenesKCNK13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15093254
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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