A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678214



Internal ID9944319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:77349249..77355139hg38UCSC Ensembl
Outerchr14:77349092..77355292hg38UCSC Ensembl
Innerchr14:77815592..77821482hg19UCSC Ensembl
Outerchr14:77815435..77821635hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg386201
hg196201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5490405
SamplesNA19213
Known GenesTMED8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678214
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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