A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564222



Internal ID7035322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:46786860..46789753hg38UCSC Ensembl
Outerchr20:45415499..45418392hg19UCSC Ensembl
Outerchr20:44848906..44851799hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg382591
hg192591
hg182591
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1004264
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564222
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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