A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6945723



Internal ID10050130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:32092047..32092172hg38UCSC Ensembl
Outerchr17:30419066..30419191hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715827, esv2715828
Supporting Variants
SamplesSSM023
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)essv6945723
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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