A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743901



Internal ID9978185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1154464..1156406hg38UCSC Ensembl
Outerchr11:1148375..1150033hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381943
hg191659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6900483, essv6823434, essv6803340, essv6775540, essv6856895, essv6706034, essv6672842, essv6924141, essv6887853, essv6806221, essv6969651, essv6812072, essv6783367, essv6731924, essv6760811, essv6863964, essv6752429, essv6919967, essv6953021, essv6770087, essv6677620, essv6819468, essv6937362, essv6768350, essv6831116, essv6684904, essv6728144, essv6685954, essv6765653, essv6976793, essv6915956, essv6746679, essv6870574, essv6668097, essv6904729, essv6850868, essv6681405, essv6743879, essv6879347, essv6815293, essv6827501
SamplesSSM100, SSM008, SSM046, SSM011, SSM064, SSM079, SSM087, SSM013, SSM073, SSM093, SSM074, SSM057, SSM090, SSM047, SSM018, SSM061, SSM029, SSM096, SSM017, SSM032, SSM003, SSM031, SSM086, SSM033, SSM066, SSM068, SSM081, SSM040, SSM078, SSM016, SSM053, SSM005, SSM080, SSM077, SSM076, SSM055, SSM025, SSM034, SSM004, SSM030, SSM063
Known Genes
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)esv2743901
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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