A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004489



Internal ID7069586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:13560940..13564963hg38UCSC Ensembl
Outerchr3:13602440..13606463hg19UCSC Ensembl
Outerchr3:13577440..13581463hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg384024
hg194024
hg184024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564259
SamplesHuRef
Known GenesFBLN2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004489
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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