A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001094



Internal ID1858728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:151517689..151517738hg19UCSC Ensembl
chr7:151148622..151148671hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg1954
hg1854
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3573745
SamplesHuRef
Known GenesPRKAG2
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)esv1001094
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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