A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722692



Internal ID10306328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61273482..61274465hg38UCSC Ensembl
Outerchr20:59848538..59849521hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38984
hg19984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6971820, essv6888704, essv6828623, essv6763939, essv6666289, essv6733076, essv6882982, essv6941341, essv6946640, essv6895472, essv6769202, essv6921202, essv6741823, essv6745410, essv6880145, essv6843407, essv6898294, essv6873764, essv6744644, essv6812875, essv6761601, essv6776589, essv6832189, essv6807062, essv6703449, essv6950068, essv6804172, essv6885692, essv6913575, essv6954248, essv6932872, essv6928725, essv6820758, essv6902148, essv6753228, essv6738533, essv6868288, essv6841065
SamplesSSM024, SSM011, SSM064, SSM039, SSM073, SSM093, SSM050, SSM074, SSM057, SSM028, SSM084, SSM047, SSM061, SSM029, SSM096, SSM062, SSM089, SSM017, SSM019, SSM094, SSM003, SSM066, SSM081, SSM020, SSM007, SSM015, SSM078, SSM053, SSM080, SSM076, SSM022, SSM010, SSM095, SSM025, SSM099, SSM052, SSM098, SSM012
Known GenesCDH4
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)esv2722692
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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