A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15109389



Internal ID5111205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102223491..102317911hg38UCSC Ensembl
chr14:102689828..102784248hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3894421
hg1994421
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635547
Supporting Variants
SamplesNA06984
Known GenesMOK, WDR20, ZNF839
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15109389
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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