A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564614



Internal ID7035714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:192671695..192680678hg38UCSC Ensembl
Outerchr3:192389484..192398467hg19UCSC Ensembl
Outerchr3:193872178..193881161hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg388984
hg198984
hg188984
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005070
Supporting Variants
SamplesHuRef
Known GenesFGF12
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564614
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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