A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv405e201



Internal ID22759763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3868124..3868206hg38UCSC Ensembl
chr17:3771418..3771500hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2715538, esv2715536
SamplesSSM026, SSM086
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)dgv405e201
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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