A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727863



Internal ID9962175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:79439427..79441621hg38UCSC Ensembl
Outerchr4:80360581..80362775hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg382195
hg192195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6722815, essv6700822, essv6821998, essv6751224, essv6686844, essv6886621, essv6704581, essv6736606, essv6919484, essv6968858, essv6837000, essv6764712, essv6973907, essv6794187, essv6683566, essv6670333, essv6869350, essv6956191, essv6767160, essv6924029, essv6962907, essv6903297, essv6844552, essv6675120, essv6848359, essv6951436, essv6697593, essv6739544, essv6707996, essv6910874, essv6854495, essv6899298, essv6833361, essv6865014, essv6730435, essv6860222, essv6947356, essv6829752, essv6808041, essv6926417, essv6774213, essv6711414, essv6781751, essv6883862, essv6726671, essv6934195, essv6679982, essv6956974, essv6878257, essv6813913, essv6734039, essv6840806, essv6802226, essv6690016, essv6914699, essv6822576, essv6872369, essv6791388, essv6785928, essv6762340, essv6715060, essv6896439
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM064, SSM079, SSM087, SSM038, SSM013, SSM009, SSM073, SSM093, SSM050, SSM042, SSM088, SSM041, SSM057, SSM028, SSM084, SSM090, SSM021, SSM047, SSM069, SSM029, SSM096, SSM062, SSM026, SSM089, SSM019, SSM035, SSM003, SSM031, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM082, SSM015, SSM016, SSM005, SSM077, SSM010, SSM091, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM049, 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)esv2727863
Frequency
Sample Size96
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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