A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727751



Internal ID9962063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247433367..247434169hg38UCSC Ensembl
Outerchr1:247596669..247597471hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38803
hg19803
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6739021, essv6910273, essv6918573, essv6814820, essv6750442, essv6821394, essv6750773, essv6804591, essv6961887, essv6753685, essv6722207
SamplesSSM008, SSM027, SSM045, SSM079, SSM074, SSM002, SSM057, SSM058, SSM003, SSM015, SSM052
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)esv2727751
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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