A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6901474



Internal ID9946689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38964542..38966118hg38UCSC Ensembl
Outerchr22:39360547..39362123hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381577
hg191577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724238, esv2724240
Supporting Variants
SamplesSSM100
Known GenesAPOBEC3A_B
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)essv6901474
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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