A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564738



Internal ID7035838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:71374340..71377600hg38UCSC Ensembl
Outerchr12:71768120..71771380hg19UCSC Ensembl
Outerchr12:70054387..70057647hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg382994
hg192994
hg182994
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007534
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564738
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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