A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744122



Internal ID9978406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:12922136..12922469hg38UCSC Ensembl
Outerchr11:12943683..12944016hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6823458, essv6677645, essv6827530, essv6783393, essv6803357, essv6800028, essv6866914, essv6894497, essv6681422, essv6891108, essv6684918, essv6724331, essv6887868, essv6819492, essv6976841, essv6672873, essv6815315, essv6850901
SamplesSSM086, SSM033, SSM078, SSM089, SSM031, SSM072, SSM032, SSM045, SSM097, SSM077, SSM029, SSM073, SSM034, SSM096, SSM079, SSM068, SSM098, SSM080
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)esv2744122
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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