A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662570



Internal ID9581989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19831434..19832072hg38UCSC Ensembl
chr22:19818957..19819595hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38639
hg19639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6183595, essv5789258, essv5494105, essv5804206, essv6457086, essv6251873, essv6383724, essv6595488, essv5479297, essv6225540, essv5668126
SamplesNA12748, NA12286, NA07056, NA19678, NA18949, NA12763, NA18856, NA06986, NA18522, NA11932, NA18853
Known GenesGNB1L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662570
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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