A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14926093



Internal ID6319828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21117087..21119231hg38UCSC Ensembl
Innerchr14:21117116..21119202hg38UCSC Ensembl
Outerchr14:21117058..21119260hg38UCSC Ensembl
chr14:21585246..21587390hg19UCSC Ensembl
Innerchr14:21585275..21587361hg19UCSC Ensembl
Outerchr14:21585217..21587419hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg382145
hg192145
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633703
Supporting Variants
SamplesNA19917
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14926093
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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