A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15107813



Internal ID4349830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100176310..100195956hg38UCSC Ensembl
Innerchr14:100176361..100195905hg38UCSC Ensembl
Outerchr14:100176259..100196007hg38UCSC Ensembl
chr14:100642647..100662293hg19UCSC Ensembl
Innerchr14:100642698..100662242hg19UCSC Ensembl
Outerchr14:100642596..100662344hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3819647
hg1919647
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635497
Supporting Variants
SamplesHG03887
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15107813
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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