A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750390



Internal ID9984674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3053954..3073723hg38UCSC Ensembl
Outerchr16:3103955..3123724hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3819770
hg1919770
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6755927, essv6665445, essv6901758, essv6732585, essv6920710, essv6688660, essv6924823, essv6735490, essv6839090, essv6776378, essv6761316, essv6920709, essv6717268, essv6831772, essv6702929, essv6696064, essv6831771, essv6772549, essv6788248, essv6901757, essv6728747, essv6820256, essv6820255, essv6772548, essv6942840, essv6871086, essv6758546, essv6678290, essv6838109, essv6792331, essv6869909, essv6851957, essv6721145, essv6851958, essv6960086, essv6920711, essv6971330, essv6891669, essv6953752, essv6928311, essv6809747, essv6945483, essv6784049, essv6928310, essv6877035, essv6772550, essv6888356, essv6738227, essv6828178, essv6862963, essv6796498, essv6779924, essv6936654, essv6768858, essv6869898, essv6776140, essv6897984, essv6665446, essv6895069, essv6932354, essv6895070, essv6713909, essv6835316, essv6867755, essv6916546, essv6824092, essv6936653, essv6966557
SamplesSSM010, SSM065, SSM027, SSM092, SSM082, SSM086, SSM006, SSM061, SSM099, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM035, SSM025, SSM020, SSM071, SSM016, SSM032, SSM039, SSM067, SSM083, SSM050, SSM097, SSM012, SSM017, SSM011, SSM066, SSM028, SSM029, SSM003, SSM047, SSM069, SSM021, SSM037, SSM046, SSM019, SSM096, SSM023, SSM079, SSM068, SSM044, SSM075, SSM026, SSM049, SSM008, SSM098, SSM018, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesIL32, MMP25
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)esv2750390
Frequency
Sample Size96
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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