A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715539



Internal ID10299175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:3868140..3868293hg38UCSC Ensembl
Outerchr17:3771434..3771587hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv406e201
Supporting Variantsessv6674209
SamplesSSM031
Known GenesCAMKK1
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)esv2715539
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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