A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696287



Internal ID9995907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:110773465..110774285hg38UCSC Ensembl
Outerchr1:111316087..111316907hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38821
hg19821
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716106
Supporting Variants
SamplesSSM006
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)essv6696287
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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