A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2429n106



Internal ID20161786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17643774..17647145hg38UCSC Ensembl
chr22:18126540..18129911hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383372
hg193372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1122204, nsv1127027
SamplesKWS1
Known GenesBCL2L13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2429n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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