A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647354



Internal ID6687409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22285795..22903245hg38UCSC Ensembl
Innerchr22:22286318..22902745hg38UCSC Ensembl
Outerchr22:22284795..22904245hg38UCSC Ensembl
chr22:22640179..23245425hg19UCSC Ensembl
Innerchr22:22640679..23244925hg19UCSC Ensembl
Outerchr22:22639179..23246425hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38617451
hg19605247
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv826e214
Supporting Variantsessv16374448, essv16374434, essv16374435, essv16374410, essv16374432, essv16374443, essv16374429, essv16374420, essv16374445, essv16374403, essv16374427, essv16374440, essv16374423, essv16374406, essv16374401, essv16374431, essv16374436, essv16374449, essv16374407, essv16374397, essv16374433, essv16374404, essv16374421, essv16374438, essv16374428, essv16374416, essv16374408, essv16374402, essv16374446, essv16374425, essv16374415, essv16374426, essv16374405, essv16374411, essv16374444, essv16374417, essv16374439, essv16374398, essv16374396, essv16374414, essv16374399, essv16374430, essv16374413, essv16374412, essv16374424, essv16374418, essv16374447, essv16374419, essv16374442, essv16374441, essv16374437, essv16374400, essv16374422, essv16374409
SamplesNA11829, NA19204, HG03057, HG02798, NA19819, HG00452, HG02394, HG01947, NA18526, NA07357, HG00622, NA19054, HG02111, NA19038, NA19922, NA12005, NA19720, HG03380, HG01275, HG00365, NA20535, NA19347, HG03547, HG04180, HG01390, HG03382, NA19042, HG00684, HG02141, NA12827, NA18523, HG02896, NA18945, NA18646, HG03240, NA19834, HG00353, NA12873, NA20797, HG03557, HG01086, NA06994, HG01770, HG01028, NA18873, NA18972, NA20503, HG03445, HG02947, HG01431, HG03439, NA20772, NA19676, NA20511
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)esv3647354
Frequency
Sample Size2504
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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