A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988948



Internal ID38538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:221000..222110hg38UCSC Ensembl
Outerchr7:221000..222110hg19UCSC Ensembl
Outerchr7:316083..317193hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381111
hg191111
hg181111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565105
SamplesHuRef
Known GenesFAM20C
MethodSequencing
Analysis
PlatformSanger Sequencing
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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