A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742309



Internal ID10296425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247427809..247428040hg38UCSC Ensembl
Outerchr1:247591111..247591342hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv62e201
Supporting Variantsessv6847362
SamplesSSM086
Known GenesNLRP3
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)esv2742309
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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