A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6756037



Internal ID10161901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:11953775..11954559hg38UCSC Ensembl
Outerchr17:11857092..11857876hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38785
hg19785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715657
Supporting Variants
SamplesSSM058
Known GenesDNAH9
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)essv6756037
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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