A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647351



Internal ID6687406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22228240..22331920hg38UCSC Ensembl
chr22:22582636..22686278hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38103681
hg19103643
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16374380, essv16374378, essv16374345, essv16374381, essv16374353, essv16374350, essv16374390, essv16374365, essv16374349, essv16374348, essv16374358, essv16374382, essv16374384, essv16374385, essv16374388, essv16374362, essv16374352, essv16374387, essv16374355, essv16374383, essv16374373, essv16374363, essv16374346, essv16374386, essv16374368, essv16374367, essv16374374, essv16374361, essv16374375, essv16374366, essv16374389, essv16374379, essv16374354, essv16374357, essv16374369, essv16374351, essv16374359, essv16374370, essv16374377, essv16374372, essv16374371, essv16374391, essv16374376, essv16374360, essv16374356, essv16374347, essv16374364
SamplesNA12827, HG01515, HG02165, HG03382, HG00956, NA18526, HG02060, HG02896, NA12340, NA20511, NA18972, HG00326, HG03111, NA12005, NA19210, NA11893, HG00177, HG03268, NA18873, NA19037, HG02394, HG02716, NA12873, HG01694, NA18856, HG03445, NA19042, HG03063, HG00844, HG03547, NA19347, NA20797, NA20542, NA19462, HG02947, NA10851, NA12749, NA18646, HG00654, HG02141, NA12878, HG03240, NA19204, HG02798, NA06994, HG02051, NA20772
Known GenesBMS1P20, VPREB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647351
Frequency
Sample Size2504
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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