A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716952



Internal ID10300588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:34166721..34167090hg38UCSC Ensembl
Outerchr18:31746685..31747054hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6880056, essv6796866, essv6824414, essv6898211, essv6769108, essv6772881, essv6685714, essv6721468, essv6949932, essv6713711, essv6678612, essv6954093, essv6882885, essv6816128, essv6977606, essv6692476, essv6828480, essv6852439, essv6820585, essv6812781, essv6801079, essv6874250, essv6788589, essv6909592, essv6913417, essv6792684, essv6703287, essv6806960, essv6696412, essv6868113, essv6967083, essv6832071, essv6945862, essv6776453, essv6804068, essv6812399
SamplesSSM071, SSM027, SSM024, SSM064, SSM079, SSM065, SSM039, SSM009, SSM073, SSM093, SSM074, SSM042, SSM023, SSM069, SSM089, SSM094, SSM032, SSM044, SSM014, SSM086, SSM066, SSM081, SSM072, SSM015, SSM078, SSM005, SSM080, SSM037, SSM077, SSM076, SSM091, SSM070, SSM025, SSM034, SSM004, SSM099
Known GenesNOL4
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)esv2716952
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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