A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745189



Internal ID9979473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:124911992..125036537hg38UCSC Ensembl
Outerchr11:124781888..124906433hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38124546
hg19124546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6668174, essv6685028, essv6763347, essv6752525, essv6851075, essv6887967, essv6936059, essv6908796, essv6737850, essv6673067, essv6749628, essv6882281, essv6894594, essv6819628, essv6743980, essv6891228, essv6812178, essv6755495, essv6735135, essv6765734, essv6677756, essv6673065, essv6908797, essv6741016, essv6965684, essv6702390, essv6879436, essv6857111, essv6710665, essv6862305, essv6758186, essv6977054, essv6760926, essv6959164
SamplesSSM059, SSM027, SSM087, SSM097, SSM039, SSM093, SSM050, SSM088, SSM057, SSM058, SSM021, SSM061, SSM029, SSM096, SSM062, SSM026, SSM094, SSM032, SSM031, SSM014, SSM086, SSM006, SSM078, SSM053, SSM076, SSM034, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063
Known GenesCCDC15, HEPACAM, HEPN1
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)esv2745189
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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