A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6863740



Internal ID9910137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29767558..29769570hg38UCSC Ensembl
Outerchr22:30163547..30165559hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382013
hg192013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724127
Supporting Variants
SamplesSSM088
Known GenesUQCR10
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)essv6863740
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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