A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723949



Internal ID10307585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17419364..17419557hg38UCSC Ensembl
Outerchr22:17898411..17898604hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6725600, essv6941520, essv6816390, essv6804261, essv6666595, essv6717936, essv6674908, essv6954452
SamplesSSM045, SSM073, SSM029, SSM031, SSM077, SSM022, SSM025, SSM043
Known Genes
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)esv2723949
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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