A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672447



Internal ID9938552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:70655219..70657751hg38UCSC Ensembl
Outerchr14:70655182..70657801hg38UCSC Ensembl
Innerchr14:71121936..71124468hg19UCSC Ensembl
Outerchr14:71121899..71124518hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg382620
hg192620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5651574, essv5583677
SamplesHG00122, HG00246
Known GenesTTC9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672447
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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