A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722686



Internal ID10306322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61272966..61274457hg38UCSC Ensembl
Outerchr20:59848022..59849513hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381492
hg191492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv662e201
Supporting Variantsessv6967311, essv6971820, essv6858619, essv6828623, essv6763939, essv6858620, essv6666289, essv6733076, essv6733075, essv6941341, essv6946640, essv6797025, essv6874346, essv6769202, essv6909728, essv6921202, essv6710279, essv6773024, essv6843407, essv6873764, essv6928724, essv6843406, essv6744644, essv6682455, essv6812875, essv6761601, essv6937186, essv6776589, essv6950068, essv6885692, essv6913575, essv6954248, essv6913573, essv6932872, essv6921201, essv6717744, essv6820758, essv6674647, essv6868288, essv6841065
SamplesSSM071, SSM027, SSM024, SSM011, SSM064, SSM065, SSM087, SSM041, SSM028, SSM084, SSM021, SSM047, SSM061, SSM029, SSM062, SSM089, SSM017, SSM019, SSM003, SSM031, SSM014, SSM033, SSM066, SSM020, SSM015, SSM078, SSM053, SSM080, SSM076, SSM022, SSM010, SSM091, SSM095, SSM025, SSM043
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)esv2722686
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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