A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672376



Internal ID9591795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141465345..141468745hg38UCSC Ensembl
chr7:141165145..141168545hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg383401
hg193401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6443843, essv5544998, essv5993394, essv5982178, essv5960110
SamplesHG00698, HG00699, HG00656, NA18610, HG00702
Known GenesTMEM178B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672376
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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