A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696257



Internal ID10107856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:11953897..11954346hg38UCSC Ensembl
Outerchr17:11857214..11857663hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715657
Supporting Variants
SamplesSSM037
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)essv6696257
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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