A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666321



Internal ID9932426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:102731392..102737780hg38UCSC Ensembl
Outerchr14:102731355..102737830hg38UCSC Ensembl
Innerchr14:103197729..103204117hg19UCSC Ensembl
Outerchr14:103197692..103204167hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg386476
hg196476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5784485, essv5699300
SamplesHG01048, HG01149
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666321
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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