A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001261



Internal ID1854399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:10286856..10293941hg19UCSC Ensembl
Outerchr19:10147856..10154941hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg194358
hg184358
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3565233
SamplesHuRef
Known GenesDNMT1
Method
Analysis
PlatformSanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001261
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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