A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745192



Internal ID9979476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:124960170..124960347hg38UCSC Ensembl
Outerchr11:124830066..124830243hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6851075, essv6673067, essv6819628, essv6965684, essv6879436, essv6862305, essv6959164
SamplesSSM027, SSM093, SSM088, SSM026, SSM031, SSM086, SSM078
Known GenesCCDC15
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)esv2745192
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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