A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673510



Internal ID9939615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:28648423..28649346hg38UCSC Ensembl
chr14:29117629..29118552hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38924
hg19924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5875761, essv5589958, essv5932128, essv5753498, essv6505216, essv6224483, essv6044516, essv5859662, essv5486711, essv6002902, essv5701110, essv6531245, essv5538097
SamplesHG01441, HG00361, HG01052, NA12341, HG00272, NA19678, HG00182, HG00108, NA12342, HG00190, NA06989, HG00285, HG00180
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673510
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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