A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6871620



Internal ID10009593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:12293282..12293567hg38UCSC Ensembl
Outerchr17:12196599..12196884hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715659
Supporting Variants
SamplesSSM011
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)essv6871620
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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