A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6888507



Internal ID10283315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:395843..412230hg38UCSC Ensembl
Outerchr17:245634..262021hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3816388
hg1916388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715298
Supporting Variants
SamplesSSM096
Known GenesC17orf97
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)essv6888507
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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