A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004968



Internal ID1841450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145026736..145027058hg19UCSC Ensembl
chr1:143738093..143738415hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg19323
hg18323
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3572301
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)esv1004968
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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