A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715387



Internal ID10299023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:914112..914385hg38UCSC Ensembl
Outerchr17:817352..817625hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665720, essv6912329, essv6858172, essv6784246, essv6747267, essv6761400, essv6668517, essv6743121, essv6753000, essv6846429, essv6815999, essv6877146, essv6820402, essv6905499, essv6936875, essv6901890, essv6949755, essv6920877, essv6898081, essv6758634, essv6691432, essv6966827, essv6971508, essv6796697, essv6941029
SamplesSSM059, SSM071, SSM027, SSM024, SSM087, SSM013, SSM002, SSM057, SSM028, SSM092, SSM021, SSM061, SSM029, SSM017, SSM085, SSM068, SSM007, SSM078, SSM005, SSM077, SSM022, SSM055, SSM099, SSM030, SSM012
Known GenesNXN
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)esv2715387
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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