A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15052688



Internal ID846993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70580456..70582598hg38UCSC Ensembl
Innerchr14:70580456..70582598hg38UCSC Ensembl
Outerchr14:70580164..70582861hg38UCSC Ensembl
chr14:71047173..71049315hg19UCSC Ensembl
Innerchr14:71047173..71049315hg19UCSC Ensembl
Outerchr14:71046881..71049578hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg382143
hg192143
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634864
Supporting Variants
SamplesHG00442
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15052688
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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