A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010993



Internal ID1857708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:144881391..144919679hg19UCSC Ensembl
Outerchr1:143592748..143631036hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg1915382
hg1815382
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3564189
SamplesHuRef
Known GenesPDE4DIP
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)esv1010993
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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