A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6747087



Internal ID9652898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:25426808..25576389hg38UCSC Ensembl
Outerchr22:25822775..25972356hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38149582
hg19149582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724087
Supporting Variants
SamplesSSM007
Known GenesADRBK2, CRYBB2P1, MIR6817
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)essv6747087
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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