A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745326



Internal ID9979610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:134308012..134308523hg38UCSC Ensembl
Outerchr11:134177906..134178417hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6916071, essv6959183, essv6673084, essv6927882, essv6803462, essv6831267, essv6842383, essv6873628, essv6904871
SamplesSSM013, SSM073, SSM084, SSM026, SSM019, SSM031, SSM081, SSM016, SSM091
Known GenesGLB1L3
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)esv2745326
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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