A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3445771



Internal ID14946035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102461478..102461490hg38UCSC Ensembl
Innerchr12:102461476..102461490hg38UCSC Ensembl
Outerchr12:102461464..102461502hg38UCSC Ensembl
chr12:102855256..102855268hg19UCSC Ensembl
Innerchr12:102855254..102855268hg19UCSC Ensembl
Outerchr12:102855242..102855280hg19UCSC Ensembl
chr12:101379386..101379398hg18UCSC Ensembl
Innerchr12:101379398..101379384hg18UCSC Ensembl
Outerchr12:101379372..101379410hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8672218, essv8672219
SamplesNA12878, NA12892
Known GenesIGF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3445771
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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