A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15099887



Internal ID6404047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93760176..93766675hg38UCSC Ensembl
Innerchr14:93760176..93766675hg38UCSC Ensembl
Outerchr14:93759676..93767175hg38UCSC Ensembl
chr14:94226522..94233021hg19UCSC Ensembl
Innerchr14:94226522..94233021hg19UCSC Ensembl
Outerchr14:94226022..94233521hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg386500
hg196500
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635365
Supporting Variants
SamplesNA20351
Known GenesPRIMA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15099887
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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