A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563760



Internal ID7034860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:24715658..24717587hg38UCSC Ensembl
Outerchr12:24868592..24870521hg19UCSC Ensembl
Outerchr12:24759859..24761788hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg386135
hg196135
hg186135
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv987765
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563760
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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