A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988948



Internal ID1849939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:221000..222110hg19UCSC Ensembl
Outerchr7:316083..317193hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg19936
hg18936
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3565105
SamplesHuRef
Known GenesFAM20C
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)esv988948
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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