A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv533e201



Internal ID20125420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19_KI270938v1_alt:675095..675244hg38UCSC Ensembl
chr19:55203975..55204143hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38150
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2718899, esv2718897
SamplesSSM071, SSM039, SSM073, SSM088, SSM089, SSM032, SSM031, SSM086, SSM078
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)dgv533e201
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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