A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6812178



Internal ID9868413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:124915185..125036545hg38UCSC Ensembl
Outerchr11:124785081..124906441hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38121361
hg19121361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745189
Supporting Variants
SamplesSSM076
Known GenesCCDC15, HEPACAM, HEPN1
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)essv6812178
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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