A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14929871



Internal ID5974474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21484465..21486507hg38UCSC Ensembl
Innerchr14:21484465..21486507hg38UCSC Ensembl
Outerchr14:21484048..21487015hg38UCSC Ensembl
chr14:21952624..21954666hg19UCSC Ensembl
Innerchr14:21952624..21954666hg19UCSC Ensembl
Outerchr14:21952207..21955174hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg382043
hg192043
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633717
Supporting Variants
SamplesNA19383
Known GenesTOX4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14929871
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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