A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744121



Internal ID9978405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:12921918..12922698hg38UCSC Ensembl
Outerchr11:12943465..12944245hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38781
hg19781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6887868, essv6976841, essv6850901, essv6819492, essv6783393, essv6894497, essv6800028, essv6866914, essv6891108, essv6681422, essv6823458, essv6815315, essv6827530, essv6677645, essv6672873, essv6684918, essv6803357, essv6724331, essv6760833
SamplesSSM045, SSM079, SSM097, SSM073, SSM061, SSM029, SSM096, SSM089, SSM032, SSM031, SSM086, SSM033, SSM068, SSM072, SSM078, SSM080, SSM077, SSM034, SSM098
Known GenesTEAD1
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)esv2744121
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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