A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997217



Internal ID7081187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:31822661..31825701hg38UCSC Ensembl
Outerchr2:32047730..32050770hg19UCSC Ensembl
Outerchr2:31901234..31904274hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382741
hg192741
hg182741
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563964
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997217
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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