A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724166



Internal ID9958467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:33680013..33680772hg38UCSC Ensembl
Outerchr22:34075999..34076758hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38760
hg19760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6735883, essv6682656, essv6961182, essv6843688, essv6790598, essv6793070
SamplesSSM084, SSM026, SSM001, SSM033, SSM070, SSM049
Known GenesLARGE
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)esv2724166
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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