A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724241



Internal ID9958542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:39014940..39028280hg38UCSC Ensembl
Outerchr22:39410945..39424285hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3813341
hg1913341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6871588, essv6868549
SamplesSSM090, SSM089
Known GenesAPOBEC3C, APOBEC3D
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)esv2724241
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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