A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15109987



Internal ID1590019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102731326..102737802hg38UCSC Ensembl
Innerchr14:102731326..102737802hg38UCSC Ensembl
Outerchr14:102731201..102737939hg38UCSC Ensembl
chr14:103197663..103204139hg19UCSC Ensembl
Innerchr14:103197663..103204139hg19UCSC Ensembl
Outerchr14:103197538..103204276hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg386477
hg196477
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635567
Supporting Variants
SamplesHG01474
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15109987
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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