A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3578198



Internal ID6702894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149197990..149198052hg38UCSC Ensembl
chr5:148577553..148577615hg19UCSC Ensembl
chr5:148557746..148557808hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009293
Supporting Variants
SamplesHuRef
Known GenesABLIM3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3578198
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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