A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745217



Internal ID9979501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:126921984..126922209hg38UCSC Ensembl
Outerchr11:126791880..126792105hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6970707, essv6741018, essv6698715
SamplesSSM038, SSM004, SSM052
Known GenesKIRREL3
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)esv2745217
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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