A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997290



Internal ID7081260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:119408294..119416820hg38UCSC Ensembl
Outerchr3:119127141..119135667hg19UCSC Ensembl
Outerchr3:120609831..120618357hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg388527
hg198527
hg188527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564612
SamplesHuRef
Known GenesARHGAP31
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997290
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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