A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715953



Internal ID9950240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43305142..43322385hg38UCSC Ensembl
Outerchr17:41382491..41399748hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3817244
hg1917258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6758670, essv6744474, essv6665832, essv6936936, essv6738365, essv6761447, essv6735609, essv6753040, essv6912708, essv6756064, essv6668556, essv6763812
SamplesSSM059, SSM050, SSM002, SSM057, SSM058, SSM021, SSM061, SSM029, SSM062, SSM053, SSM049, SSM030
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)esv2715953
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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