A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6842531



Internal ID9661249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23931956..23969103hg38UCSC Ensembl
Outerchr22:24274143..24311292hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3837148
hg1937150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724041, esv2724066
Supporting Variants
SamplesSSM010
Known GenesDDTL, GSTT2, GSTT2B
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)essv6842531
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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