A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15024589



Internal ID5026405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57401494..57401956hg38UCSC Ensembl
Innerchr14:57401494..57401956hg38UCSC Ensembl
Outerchr14:57401269..57402205hg38UCSC Ensembl
chr14:57868212..57868674hg19UCSC Ensembl
Innerchr14:57868212..57868674hg19UCSC Ensembl
Outerchr14:57867987..57868923hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38463
hg19463
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634606
Supporting Variants
SamplesNA12749
Known GenesNAA30
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15024589
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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