A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563570



Internal ID7036330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:229995562..230004730hg38UCSC Ensembl
Outerchr1:230131309..230140477hg19UCSC Ensembl
Outerchr1:228197932..228207100hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg389169
hg199169
hg189169
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010662
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563570
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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