A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745202



Internal ID9979486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:125426404..125426816hg38UCSC Ensembl
Outerchr11:125296300..125296712hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965686, essv6867072, essv6806329, essv6857112, essv6819629, essv6673069
SamplesSSM027, SSM087, SSM074, SSM089, SSM031, SSM078
Known GenesPKNOX2
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)esv2745202
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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