A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744779



Internal ID9979063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:74821316..74821668hg38UCSC Ensembl
Outerchr11:74532361..74532713hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6834131, essv6791760, essv6976974, essv6882252, essv6851013, essv6698691, essv6775612, essv6709410, essv6672990, essv6862266
SamplesSSM038, SSM088, SSM041, SSM029, SSM094, SSM031, SSM086, SSM066, SSM010, SSM070
Known GenesRNF169
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)esv2744779
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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