A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6714063



Internal ID10123158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43205690..43205869hg38UCSC Ensembl
Outerchr22:43601696..43601875hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724301, esv2724303, esv2724302
Supporting Variants
SamplesSSM042
Known GenesSCUBE1
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)essv6714063
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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