A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15092057



Internal ID4970050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:87134119..87134558hg38UCSC Ensembl
Innerchr14:87134120..87134557hg38UCSC Ensembl
Outerchr14:87134118..87134559hg38UCSC Ensembl
chr14:87600463..87600902hg19UCSC Ensembl
Innerchr14:87600464..87600901hg19UCSC Ensembl
Outerchr14:87600462..87600903hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635249
Supporting Variants
SamplesNA12873
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15092057
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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