A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660238



Internal ID9926343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:53242626..53244108hg38UCSC Ensembl
Outerchr14:53242469..53244261hg38UCSC Ensembl
Innerchr14:53709344..53710826hg19UCSC Ensembl
Outerchr14:53709187..53710979hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg381793
hg191793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5937252, essv5412905, essv5936173, essv5532592, essv5744849
SamplesNA18571, NA18611, HG00419, HG00463, HG00698
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660238
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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