A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv115e201



Internal ID20125002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:132190929..132191888hg38UCSC Ensembl
chr10:134004433..134005392hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38960
hg19960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2743631, esv2743629
SamplesSSM065, SSM033, SSM084, SSM016, SSM067, SSM021, SSM023, SSM026
Known GenesDPYSL4
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)dgv115e201
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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