A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667824



Internal ID9933929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39468638..39469191hg38UCSC Ensembl
chr22:39864643..39865196hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38554
hg19554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5733147, essv6291304, essv6198327, essv5617810, essv5880026, essv5769366, essv5834001, essv6551257, essv5408713, essv6228045, essv6054230, essv6197118, essv6575947, essv5774720, essv6287594, essv6183119
SamplesNA19399, NA19332, NA11920, NA19355, NA19457, NA19238, NA19239, NA19247, NA19210, NA18933, NA18853, NA19240, NA19470, NA19438, NA19429, NA19346
Known GenesMGAT3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667824
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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