A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724711



Internal ID9959013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:49856695..49856782hg38UCSC Ensembl
Outerchr22:50250343..50250430hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967703, essv6868584, essv6853021
SamplesSSM027, SSM089, SSM086
Known GenesZBED4
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)esv2724711
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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