A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564088



Internal ID7035188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29641410..29648062hg38UCSC Ensembl
Outerchr13:30215547..30222199hg19UCSC Ensembl
Outerchr13:29113547..29120199hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg386653
hg196653
hg186653
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv995490
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564088
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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