A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727762



Internal ID9962074
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 StatusM
Merged Variants
Supporting Variantsessv6821394, essv6722207
SamplesSSM045, SSM079
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)esv2727762
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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