A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724232



Internal ID9958533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38666130..38666296hg38UCSC Ensembl
Outerchr22:39062135..39062301hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733314, essv6961192, essv6921520
SamplesSSM047, SSM026, SSM017
Known GenesCBY1
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)esv2724232
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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