A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv540e201



Internal ID20125427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55097277..55097932hg38UCSC Ensembl
chr19:55608645..55609300hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38656
hg19656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2718952, esv2718950
SamplesSSM046, SSM011, SSM079, SSM097, SSM041, SSM084, SSM029, SSM096, SSM026, SSM033, SSM072, SSM015, SSM016, SSM077, SSM022
Known GenesPPP1R12C
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)dgv540e201
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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