A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731094



Internal ID10314730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:172296184..172297332hg38UCSC Ensembl
Outerchr5:171723188..171724336hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg381149
hg191149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6942039, essv6757299, essv6951741, essv6854399, essv6956779, essv6818039, essv6762529, essv6802467, essv6860658, essv6702743, essv6774497, essv6848911, essv6670936, essv6824898, essv6736863, essv6751482, essv6911182, essv6865426, essv6734255, essv6926985, essv6680270, essv6767404, essv6778051, essv6907395, essv6855035, essv6764901, essv6687141, essv6770658, essv6826254, essv6875580, essv6874819, essv6914966, essv6727453, essv6748638, essv6754409, essv6969225, essv6974548, essv6759912, essv6745841, essv6715374, essv6918613, essv6743032, essv6934559, essv6793743, essv6739859
SamplesSSM059, SSM011, SSM064, SSM065, SSM087, SSM009, SSM073, SSM050, SSM088, SSM002, SSM057, SSM058, SSM028, SSM092, SSM021, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM035, SSM003, SSM031, SSM067, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM007, SSM015, SSM078, SSM016, SSM053, SSM080, SSM010, SSM055, SSM025, SSM043, SSM052, SSM049, SSM056, SSM063
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)esv2731094
Frequency
Sample Size96
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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