A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693488



Internal ID15072937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217068384..217069982hg38UCSC Ensembl
Innerchr2:217068982..217069384hg38UCSC Ensembl
Outerchr2:217067384..217070982hg38UCSC Ensembl
chr2:217933107..217934705hg19UCSC Ensembl
Innerchr2:217933705..217934107hg19UCSC Ensembl
Outerchr2:217932107..217935705hg19UCSC Ensembl
chr2:217641352..217642950hg18UCSC Ensembl
Innerchr2:217642352..217641950hg18UCSC Ensembl
Outerchr2:217640352..217643950hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3450358
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693488
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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