A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3362517



Internal ID15209495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105597882..105597891hg38UCSC Ensembl
Innerchr12:105597884..105597889hg38UCSC Ensembl
Outerchr12:105597880..105597893hg38UCSC Ensembl
chr12:105991660..105991669hg19UCSC Ensembl
Innerchr12:105991662..105991667hg19UCSC Ensembl
Outerchr12:105991658..105991671hg19UCSC Ensembl
chr12:104515790..104515799hg18UCSC Ensembl
Innerchr12:104515792..104515797hg18UCSC Ensembl
Outerchr12:104515788..104515801hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865624
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3362517
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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