A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010653



Internal ID6722743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:192138718..192139506hg38UCSC Ensembl
Outerchr3:191856507..191857295hg19UCSC Ensembl
Outerchr3:193339201..193339989hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38789
hg19789
hg18789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563922
SamplesHuRef
Known GenesFGF12
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010653
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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