A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674473



Internal ID9593892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33340008..33341070hg38UCSC Ensembl
chr22:33735994..33737056hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381063
hg191063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6441362, essv5718680, essv5401963, essv5890372, essv6506047, essv6165467, essv5505240, essv6127521, essv5562002
SamplesNA19138, NA19130, NA19189, NA19461, NA18856, NA19453, NA18912, NA18523, NA19108
Known GenesLARGE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
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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