A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14926113



Internal ID4927929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21284946..21286497hg38UCSC Ensembl
Innerchr14:21284953..21286491hg38UCSC Ensembl
Outerchr14:21284940..21286504hg38UCSC Ensembl
chr14:21753105..21754656hg19UCSC Ensembl
Innerchr14:21753112..21754650hg19UCSC Ensembl
Outerchr14:21753099..21754663hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381552
hg191552
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633708
Supporting Variants
SamplesHG03073
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14926113
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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