A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv516e201



Internal ID20125403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:28804780..28805189hg38UCSC Ensembl
chr19:29295687..29296096hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2718400, esv2718402
SamplesSSM024, SSM075, SSM046, SSM011, SSM079, SSM039, SSM074, SSM057, SSM021, SSM029, SSM096, SSM031, SSM033, SSM085, SSM020, SSM078, SSM076, SSM022, SSM034, SSM049, SSM056
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)dgv516e201
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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