A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749908



Internal ID9984192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:77618477..77618883hg38UCSC Ensembl
Outerchr15:77910819..77911225hg19UCSC Ensembl
Cytoband15q24.3
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6796449, essv6867712, essv6869564, essv6800663, essv6809718, essv6909298, essv6895036, essv6717219, essv6779881, essv6882656, essv6857892, essv6945442, essv6966486, essv6851894, essv6747160, essv6803799, essv6702882, essv6828132, essv6688628, essv6744325, essv6696013, essv6815823, essv6888323, essv6721102, essv6735463, essv6897956, essv6812533, essv6685455, essv6905312, essv6792284, essv6691956, essv6665350, essv6820217, essv6749990, essv6891638, essv6678248, essv6806705, essv6673866, essv6724894, essv6824057, essv6862918, essv6788196, essv6960000, essv6783996
SamplesSSM036, SSM071, SSM027, SSM075, SSM045, SSM011, SSM079, SSM087, SSM097, SSM039, SSM013, SSM073, SSM074, SSM088, SSM023, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM068, SSM072, SSM078, SSM053, SSM080, SSM037, SSM077, SSM076, SSM055, SSM070, SSM034, SSM099, SSM043, SSM098, SSM049, SSM056
Known GenesLINGO1
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)esv2749908
Frequency
Sample Size96
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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