A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15108043



Internal ID4722937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100364328..100481732hg38UCSC Ensembl
chr14:100830665..100948069hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38117405
hg19117405
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635506
Supporting Variants
SamplesNA06984
Known GenesWARS, WDR25
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15108043
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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