A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6733300



Internal ID9795834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29818244..29818641hg38UCSC Ensembl
Outerchr22:30214233..30214630hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724130
Supporting Variants
SamplesSSM047
Known GenesASCC2
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)essv6733300
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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