A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6821394



Internal ID9876050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247433693..247433933hg38UCSC Ensembl
Outerchr1:247596995..247597235hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727762, esv2727751
Supporting Variants
SamplesSSM079
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)essv6821394
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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