A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722690



Internal ID10306326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61273202..61274465hg38UCSC Ensembl
Outerchr20:59848258..59849521hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381264
hg191264
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv662e201
Supporting Variantsessv6971820, essv6888704, essv6828623, essv6763939, essv6666289, essv6733076, essv6882982, essv6733075, essv6941341, essv6946640, essv6895472, essv6769202, essv6909728, essv6921202, essv6745410, essv6880145, essv6843407, essv6873764, essv6744644, essv6812875, essv6761601, essv6776589, essv6832189, essv6807062, essv6703449, essv6950068, essv6804172, essv6885692, essv6913575, essv6954248, essv6932872, essv6928725, essv6820758, essv6738533, essv6868288, essv6841065
SamplesSSM024, SSM011, SSM064, SSM039, SSM073, SSM093, SSM050, SSM074, SSM028, SSM084, SSM047, SSM061, SSM029, SSM096, SSM062, SSM089, SSM017, SSM019, SSM094, SSM003, SSM014, SSM066, SSM081, SSM020, SSM007, SSM015, SSM078, SSM053, SSM080, SSM076, SSM022, SSM010, SSM095, SSM025, SSM098
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)esv2722690
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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