A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14930688



Internal ID4932504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21601896..21634667hg38UCSC Ensembl
Innerchr14:21601896..21634667hg38UCSC Ensembl
Outerchr14:21601397..21635167hg38UCSC Ensembl
chr14:22070046..22102823hg19UCSC Ensembl
Innerchr14:22070046..22102823hg19UCSC Ensembl
Outerchr14:22069546..22103323hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3832772
hg1932778
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633726
Supporting Variants
SamplesHG03449
Known GenesOR10G2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14930688
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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