A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565323



Internal ID7036705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:30828723..30830720hg38UCSC Ensembl
Outerchr13:31402860..31404857hg19UCSC Ensembl
Outerchr13:30300860..30302857hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg384147
hg194147
hg184147
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007680
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565323
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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