A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724126



Internal ID9958427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29509672..29509865hg38UCSC Ensembl
Outerchr22:29905661..29905854hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6888865, essv6852938, essv6909876, essv6807230, essv6707118, essv6721802, essv6813035, essv6750473
SamplesSSM074, SSM096, SSM044, SSM014, SSM086, SSM040, SSM076, SSM056
Known GenesTHOC5
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)esv2724126
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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