A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv424e201



Internal ID22759782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50533950..50534107hg38UCSC Ensembl
chr17:48611311..48611468hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2716037, esv2716035
SamplesSSM083, SSM013
Known GenesEPN3
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)dgv424e201
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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