A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv427e201



Internal ID20125314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74301919..74302185hg38UCSC Ensembl
chr17:72298058..72298324hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2742147, esv2740823
SamplesSSM032, SSM080
Known GenesDNAI2
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)dgv427e201
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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