A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv483e201



Internal ID18984122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:605188..608416hg38UCSC Ensembl
chr19:605188..608416hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383229
hg193229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2717755, esv2717750, esv2717753
SamplesSSM036, SSM061, SSM088, SSM025, SSM072, SSM028, SSM030, SSM073, SSM046, SSM023, SSM075
Known GenesHCN2
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)dgv483e201
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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