A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668703



Internal ID9934808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119633438..119633955hg38UCSC Ensembl
chr8:120645678..120646195hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38518
hg19518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6378715, essv5432755, essv5992036, essv5853281, essv6342765, essv6088546
SamplesNA18489, NA19982, NA19469, NA19147, NA19712, NA19102
Known GenesENPP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668703
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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