A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15076992



Internal ID5078808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80484764..80485699hg38UCSC Ensembl
Innerchr14:80484814..80485649hg38UCSC Ensembl
Outerchr14:80484683..80485780hg38UCSC Ensembl
chr14:80951107..80952042hg19UCSC Ensembl
Innerchr14:80951157..80951992hg19UCSC Ensembl
Outerchr14:80951026..80952123hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38936
hg19936
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635070
Supporting Variants
SamplesHG02667
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15076992
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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