A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15069091



Internal ID5842492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77349126..77351271hg38UCSC Ensembl
Innerchr14:77349215..77351182hg38UCSC Ensembl
Outerchr14:77349037..77351360hg38UCSC Ensembl
chr14:77815469..77817614hg19UCSC Ensembl
Innerchr14:77815558..77817525hg19UCSC Ensembl
Outerchr14:77815380..77817703hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg382146
hg192146
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635002
Supporting Variants
SamplesNA19213
Known GenesTMED8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15069091
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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