A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995605



Internal ID7080028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:21821983..21824061hg38UCSC Ensembl
Outerchr2:22044855..22046933hg19UCSC Ensembl
Outerchr2:21898360..21900438hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565641
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995605
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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