A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747379



Internal ID3295331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:48428099..48428656hg38UCSC Ensembl
Outerchr13:49002235..49002792hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38558
hg19558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6712099, essv6970987, essv6823786, essv6851454, essv6966049, essv6867098, essv6928054, essv6815590, essv6924493, essv6932012, essv6688221, essv6775845, essv6897750, essv6940362, essv6977510, essv6857450, essv6744136, essv6916272, essv6673395, essv6720831, essv6809501
SamplesSSM027, SSM053, SSM086, SSM006, SSM099, SSM031, SSM020, SSM016, SSM077, SSM005, SSM011, SSM066, SSM028, SSM029, SSM003, SSM087, SSM019, SSM079, SSM044, SSM075, SSM018
Known GenesLPAR6, RB1
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)esv2747379
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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