A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1272e201



Internal ID22760630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134707328..134707696hg38UCSC Ensembl
chr9:137599174..137599542hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2739236, esv2743400
SamplesSSM018, SSM029, SSM020
Known GenesCOL5A1
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)dgv1272e201
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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