A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727729



Internal ID10311365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247416292..247416967hg38UCSC Ensembl
Outerchr1:247579594..247580269hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38676
hg19676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933532, essv6769745, essv6693012, essv6669300, essv6946696, essv6836389, essv6950775, essv6750431, essv6707456, essv6853559, essv6961885
SamplesSSM008, SSM083, SSM027, SSM024, SSM065, SSM087, SSM041, SSM021, SSM031, SSM037, SSM025
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)esv2727729
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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