A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750391



Internal ID9984675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3054373..3054806hg38UCSC Ensembl
Outerchr16:3104374..3104807hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv323e201
Supporting Variantsessv6779924, essv6732585, essv6831771, essv6916546, essv6936653, essv6713909, essv6792331, essv6932354, essv6871086, essv6945483, essv6820255, essv6728747, essv6867755, essv6901757, essv6839090, essv6953752, essv6824092, essv6891669, essv6828178, essv6721145, essv6928311, essv6888356, essv6665445, essv6869898, essv6688660, essv6678290, essv6702929, essv6696064, essv6895069, essv6835316, essv6784049, essv6942840, essv6920710, essv6788248, essv6717268, essv6897984, essv6796498, essv6851957, essv6772548, essv6971330
SamplesSSM083, SSM071, SSM046, SSM011, SSM079, SSM065, SSM097, SSM039, SSM023, SSM028, SSM090, SSM021, SSM047, SSM069, SSM029, SSM096, SSM089, SSM017, SSM019, SSM035, SSM032, SSM003, SSM067, SSM044, SSM086, SSM006, SSM068, SSM081, SSM082, SSM020, SSM078, SSM016, SSM080, SSM037, SSM070, SSM025, SSM099, SSM043, SSM098, SSM012
Known GenesMMP25
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)esv2750391
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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