A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564982



Internal ID7036082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:173195225..173201888hg38UCSC Ensembl
Outerchr5:172622228..172628891hg19UCSC Ensembl
Outerchr5:172554834..172561497hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg386664
hg196664
hg186664
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv987652
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564982
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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