A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727773



Internal ID10311409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247434043..247434136hg38UCSC Ensembl
Outerchr1:247597345..247597438hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853561
SamplesSSM087
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)esv2727773
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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