A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15083040



Internal ID1926727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:82827775..82836544hg38UCSC Ensembl
Innerchr14:82827802..82836518hg38UCSC Ensembl
Outerchr14:82827749..82836571hg38UCSC Ensembl
chr14:83294119..83302888hg19UCSC Ensembl
Innerchr14:83294146..83302862hg19UCSC Ensembl
Outerchr14:83294093..83302915hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg388770
hg198770
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635116
Supporting Variants
SamplesHG01799
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15083040
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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