A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15052696



Internal ID6416323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70637341..70639532hg38UCSC Ensembl
Innerchr14:70637352..70639521hg38UCSC Ensembl
Outerchr14:70637330..70639543hg38UCSC Ensembl
chr14:71104058..71106249hg19UCSC Ensembl
Innerchr14:71104069..71106238hg19UCSC Ensembl
Outerchr14:71104047..71106260hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg382192
hg192192
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634865
Supporting Variants
SamplesNA20362
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15052696
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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