A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677101



Internal ID9943206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133603659..133605405hg38UCSC Ensembl
chr3:133322503..133324249hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381747
hg191747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5427541, essv5946644, essv5405742, essv6054993, essv6448427, essv5456313, essv5401446, essv5942565, essv5526111, essv6014838, essv6017338
SamplesHG00608, HG01051, HG00369, HG00178, HG00313, NA20778, NA20504, HG00116, HG00329, HG00342, HG00274
Known GenesTOPBP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677101
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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