A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674473



Internal ID4718807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33735994..33737056hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6506047, essv6441362, essv5401963, essv5505240, essv5562002, essv5718680, essv6165467, essv6127521, essv5890372
SamplesNA18523, NA19453, NA19461, NA19108, NA18912, NA18856, NA19189, NA19138, NA19130
Known GenesLARGE
Method
Analysis
Platform
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674473
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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