A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739718



Internal ID10323354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:95447278..95448342hg38UCSC Ensembl
Outerchr10:97207035..97208099hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg381065
hg191065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6931539, essv6791562, essv6884904, essv6735007, essv6752372, essv6691369, essv6887796, essv6838356, essv6677553, essv6685543, essv6720418, essv6879301, essv6702163, essv6705969, essv6731840, essv6787479, essv6684855, essv6803632, essv6832976, essv6743831, essv6827422, essv6900431, essv6815218, essv6795748, essv6779187, essv6894417, essv6681330, essv6873481, essv6758034, essv6924053, essv6831047, essv6866796, essv6695261, essv6763222, essv6769409, essv6698566, essv6803292, essv6672719, essv6908593, essv6799925, essv6712767, essv6862057, essv6688070, essv6936729, essv6891031, essv6845735, essv6768295, essv6882126, essv6919872, essv6863487, essv6783283, essv6944614, essv6812025, essv6746623, essv6740827
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM011, SSM064, SSM038, SSM097, SSM039, SSM009, SSM073, SSM093, SSM042, SSM088, SSM057, SSM023, SSM047, SSM018, SSM069, SSM096, SSM062, SSM089, SSM017, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM033, SSM085, SSM068, SSM081, SSM040, SSM072, SSM020, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM010, SSM091, SSM055, SSM070, SSM095, SSM034, SSM052, SSM098, SSM049
Known GenesSORBS1
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)esv2739718
Frequency
Sample Size96
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer