A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731032



Internal ID10314668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:166867025..166867362hg38UCSC Ensembl
Outerchr5:166294030..166294367hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6914962, essv6818032, essv6739855, essv6667468, essv6751479, essv6959473, essv6762526, essv6743027, essv6774491, essv6874375, essv6875576, essv6734248, essv6903606, essv6941706, essv6974537, essv6824843, essv6886908, essv6811195, essv6951733, essv6702698, essv6757293, essv6855024, essv6934555, essv6770649, essv6759906, essv6680264, essv6748631, essv6759187, essv6926918, essv6754404, essv6727387, essv6969219, essv6884103, essv6745834, essv6793676, essv6911177, essv6844788, essv6736858, essv6778046
SamplesSSM059, SSM008, SSM065, SSM087, SSM013, SSM009, SSM050, SSM002, SSM057, SSM058, SSM028, SSM092, SSM021, SSM061, SSM029, SSM062, SSM003, SSM067, SSM001, SSM033, SSM066, SSM006, SSM085, SSM007, SSM015, SSM078, SSM016, SSM053, SSM076, SSM010, SSM055, SSM095, SSM025, SSM004, SSM052, SSM049, SSM056, SSM030, SSM012
Known Genes
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)esv2731032
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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