A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716020



Internal ID10299656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:49151034..49151439hg38UCSC Ensembl
Outerchr17:47228396..47228801hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6710069, essv6871241, essv6678522, essv6901141, essv6796764, essv6806896, essv6909524, essv6852301, essv6685650, essv6868014, essv6665850, essv6891844, essv6725193, essv6706847, essv6721379, essv6839334, essv6874178, essv6766166, essv6692191, essv6728993, essv6871965, essv6703187, essv6882828, essv6800985, essv6674291, essv6863205
SamplesSSM100, SSM036, SSM083, SSM071, SSM045, SSM046, SSM011, SSM097, SSM039, SSM074, SSM088, SSM041, SSM090, SSM029, SSM089, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM040, SSM072, SSM091, SSM034, SSM063
Known GenesB4GALNT2
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)esv2716020
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer