A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678500



Internal ID9597919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:49704356..49707165hg38UCSC Ensembl
Outerchr14:49704199..49707318hg38UCSC Ensembl
Innerchr14:50171074..50173883hg19UCSC Ensembl
Outerchr14:50170917..50174036hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg383120
hg193120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv396e199
Supporting Variantsessv6180054, essv5889067
SamplesHG00656, HG00702
Known GenesKLHDC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678500
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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