A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565542



Internal ID7036924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:78811953..78817186hg38UCSC Ensembl
Outerchr5:78107776..78113009hg19UCSC Ensembl
Outerchr5:78143532..78148765hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg385234
hg195234
hg185234
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv991971
Supporting Variants
SamplesHuRef
Known GenesARSB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565542
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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