A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676688



Internal ID9942793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92556162..92559492hg38UCSC Ensembl
Outerchr14:92556125..92559542hg38UCSC Ensembl
Innerchr14:93022507..93025837hg19UCSC Ensembl
Outerchr14:93022470..93025887hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg383418
hg193418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5958629
SamplesHG00704
Known GenesRIN3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676688
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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