A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004413



Internal ID7069510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:152074612..152083330hg38UCSC Ensembl
Outerchr5:151454173..151462891hg19UCSC Ensembl
Outerchr5:151434366..151443084hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg388719
hg198719
hg188719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564304
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004413
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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