A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731744



Internal ID10315380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:28339223..28340257hg38UCSC Ensembl
Outerchr6:28307000..28308034hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381035
hg191035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6704922, essv6734294, essv6918674, essv6974679, essv6956904, essv6934636, essv6865515, essv6855136, essv6903662, essv6677688, essv6759971, essv6774549, essv6711766, essv6727932, essv6818140, essv6869621, essv6757347, essv6730805, essv6770725, essv6794354, essv6802517, essv6963622, essv6748679, essv6794589, essv6922992, essv6926719, essv6951809, essv6708349, essv6739923, essv6743084, essv6697871, essv6751539, essv6911255
SamplesSSM059, SSM071, SSM027, SSM065, SSM087, SSM038, SSM013, SSM009, SSM073, SSM042, SSM041, SSM057, SSM090, SSM021, SSM047, SSM018, SSM061, SSM029, SSM026, SSM089, SSM017, SSM019, SSM066, SSM040, SSM007, SSM015, SSM078, SSM053, SSM005, SSM025, SSM052, SSM049, SSM056
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)esv2731744
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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