A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6718336



Internal ID10133024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:232287393..232287699hg38UCSC Ensembl
Outerchr1:232423139..232423445hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724939
Supporting Variants
SamplesSSM044
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)essv6718336
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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