A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714714



Internal ID10298350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:76134592..76135046hg38UCSC Ensembl
Outerchr16:76168490..76168944hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6747235, essv6703056, essv6831870, essv6685581, essv6916680, essv6971442, essv6706720, essv6696170, essv6725063, essv6780016, essv6809830, essv6905457, essv6839223, essv6863084, essv6820347, essv6945612, essv6717377, essv6732722, essv6901842, essv6674112, essv6776249, essv6852116, essv6912063, essv6699139, essv6835434, essv6928426, essv6846397, essv6803912, essv6682114, essv6949708, essv6713515, essv6742786, essv6882768, essv6678415, essv6966726, essv6758593, essv6960256, essv6932498, essv6898051, essv6940958, essv6867882
SamplesSSM059, SSM083, SSM027, SSM024, SSM075, SSM045, SSM038, SSM039, SSM013, SSM073, SSM042, SSM088, SSM002, SSM023, SSM028, SSM047, SSM026, SSM089, SSM019, SSM094, SSM032, SSM031, SSM067, SSM086, SSM033, SSM066, SSM085, SSM081, SSM040, SSM082, SSM020, SSM007, SSM078, SSM016, SSM037, SSM022, SSM055, SSM034, SSM099, SSM043, SSM012
Known Genes
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)esv2714714
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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