A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv538e201



Internal ID20125425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55032899..55033081hg38UCSC Ensembl
chr19:55544267..55544449hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2718942, esv2718939
SamplesSSM027, SSM011, SSM023, SSM098
Known GenesGP6
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)dgv538e201
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer