A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714802



Internal ID9949087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:82970319..82970657hg38UCSC Ensembl
Outerchr16:83003924..83004262hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665623, essv6871187, essv6750068, essv6888474, essv6867889, essv6742831, essv6898056, essv6835442, essv6820352, essv6784204, essv6828303, essv6800865, essv6803919, essv6885469, essv6815958, essv6846404, essv6879906, essv6706731, essv6696179, essv6810621, essv6747244, essv6928435, essv6940972, essv6824218, essv6792458, essv6839227, essv6874092, essv6768949, essv6688770, essv6913189, essv6971450, essv6809841, essv6796638, essv6806811
SamplesSSM022, SSM007, SSM082, SSM055, SSM091, SSM099, SSM040, SSM078, SSM089, SSM064, SSM035, SSM072, SSM071, SSM083, SSM077, SSM093, SSM056, SSM085, SSM009, SSM011, SSM028, SSM029, SSM095, SSM073, SSM037, SSM019, SSM096, SSM079, SSM068, SSM074, SSM075, SSM015, SSM070, SSM080
Known GenesCDH13
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)esv2714802
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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