A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716138



Internal ID9950425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:68035068..68035765hg38UCSC Ensembl
Outerchr17:66031184..66031881hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38698
hg19698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945762, essv6901964, essv6800996, essv6732870, essv6792601, essv6780172, essv6971597, essv6806902, essv6713634, essv6941113, essv6944741, essv6729008, essv6796778, essv6772798, essv6703201, essv6692202, essv6721390, essv6949839, essv6954014, essv6717536, essv6665874, essv6706861, essv6784325, essv6932652, essv6936956, essv6788511, essv6741648, essv6843200, essv6668567, essv6920970, essv6832001, essv6682246, essv6960478, essv6872043, essv6839348, essv6966959, essv6925028, essv6678531, essv6913337
SamplesSSM036, SSM083, SSM071, SSM027, SSM024, SSM046, SSM011, SSM065, SSM039, SSM074, SSM042, SSM023, SSM028, SSM084, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM017, SSM032, SSM003, SSM067, SSM044, SSM033, SSM068, SSM081, SSM040, SSM072, SSM020, SSM015, SSM022, SSM070, SSM025, SSM043, SSM052, SSM030, SSM012
Known GenesKPNA2
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)esv2716138
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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