A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv99e201



Internal ID20124986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52302241..52302356hg38UCSC Ensembl
chr10:54062001..54062116hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2736862, esv2736840
SamplesSSM027, SSM088, SSM089, SSM087
Known GenesPRKG1-AS1
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)dgv99e201
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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