A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6925035



Internal ID10031634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:72320171..72320532hg38UCSC Ensembl
Outerchr17:70316312..70316673hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38362
hg19362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716182
Supporting Variants
SamplesSSM018
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)essv6925035
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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