A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv394e201



Internal ID22759752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:893587..893819hg38UCSC Ensembl
chr17:796827..797059hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2715380, esv2741298, esv2715382
SamplesSSM045, SSM087, SSM047, SSM094, SSM043
Known GenesNXN
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)dgv394e201
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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