A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749655



Internal ID10330625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:47428417..47428669hg38UCSC Ensembl
Outerchr15:47720614..47720866hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6724875, essv6820178, essv6897937, essv6959952, essv6888306, essv6862879, essv6831714, essv6966436, essv6702848, essv6806681, essv6779858, essv6905286, essv6685429, essv6665290, essv6695980, essv6688604, essv6815797, essv6909267, essv6895018, essv6867671, essv6796430, essv6678219, essv6900924, essv6828110, essv6835252, essv6732522, essv6871034, essv6891616
SamplesSSM100, SSM071, SSM027, SSM045, SSM097, SSM039, SSM013, SSM074, SSM088, SSM090, SSM047, SSM029, SSM096, SSM026, SSM089, SSM035, SSM032, SSM067, SSM014, SSM081, SSM082, SSM078, SSM080, SSM037, SSM077, SSM034, SSM099, SSM098
Known GenesSEMA6D
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)esv2749655
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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