A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673001



Internal ID9939106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:132752703..132753311hg38UCSC Ensembl
Outerchr8:132752666..132753361hg38UCSC Ensembl
Innerchr8:133764949..133765557hg19UCSC Ensembl
Outerchr8:133764912..133765607hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38696
hg19696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6514847, essv5643118, essv6352020
SamplesNA19397, NA19396, NA19916
Known GenesTMEM71
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673001
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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