A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv610e201



Internal ID20125497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108448027..108448299hg38UCSC Ensembl
chr2:109064483..109064755hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2720502, esv2720504
SamplesSSM100, SSM045, SSM026, SSM033
Known Genes
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)dgv610e201
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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