A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv826e214



Internal ID20122249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22285795..22905103hg38UCSC Ensembl
chr22:22640179..23247283hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38619309
hg19607105
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3647366, esv3647354
SamplesNA12383, NA11829, NA19204, HG03057, HG02798, NA19819, HG00452, NA12340, HG02394, HG01947, NA18526, NA07357, HG00622, HG02860, NA19054, HG01510, HG02111, NA19038, NA19922, NA12005, NA19720, HG00335, HG03380, HG01275, HG00365, NA20535, NA12342, HG00428, NA19347, HG03547, NA20767, HG04180, HG02221, HG01390, HG03382, NA19042, HG00684, HG02141, NA12827, HG01679, NA06985, NA18523, HG02896, NA18945, NA18646, HG03028, NA18535, HG03240, NA19834, HG00353, NA12873, NA20797, HG03557, NA18610, HG01086, NA06994, HG01770, HG01804, HG01028, NA18873, NA18972, NA20503, HG03445, HG02947, HG01431, NA20585, HG03439, NA21120, NA20772, NA19676, NA20511, NA18997
Known GenesBMS1P20, GGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv826e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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