A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6913773



Internal ID9677621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23882005..23882346hg38UCSC Ensembl
Outerchr22:24224192..24224533hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724041, esv2724065
Supporting Variants
SamplesSSM015
Known GenesSLC2A11
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6913773
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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