A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6888879



Internal ID9936785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45158849..45161198hg38UCSC Ensembl
Outerchr22:45554730..45557079hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382350
hg192350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724388
Supporting Variants
SamplesSSM096
Known GenesLOC100506714
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)essv6888879
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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