A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674393



Internal ID9940498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149045463..149045970hg38UCSC Ensembl
chr5:148425026..148425533hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38508
hg19508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5427287, essv5771306, essv6477615, essv5531076, essv6597890, essv5614730, essv6439301
SamplesNA18508, NA19371, NA19469, NA19470, NA19467, NA19102, NA19429
Known GenesSH3TC2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674393
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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