A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715809



Internal ID10299445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30358797..30359822hg38UCSC Ensembl
Outerchr17:28685815..28686840hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381026
hg191026
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6760708, essv6839431, essv6756052, essv6820455, essv6665806, essv6936922, essv6761434, essv6867983, essv6777933, essv6966900, essv6858238, essv6916766, essv6753026, essv6763801, essv6863175, essv6741617, essv6758660, essv6735602, essv6721348, essv6738355, essv6744468, essv6674256
SamplesSSM059, SSM008, SSM027, SSM087, SSM050, SSM088, SSM057, SSM058, SSM021, SSM061, SSM029, SSM062, SSM089, SSM031, SSM044, SSM001, SSM078, SSM016, SSM053, SSM010, SSM052, SSM049
Known Genes
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)esv2715809
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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