A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3412457



Internal ID15259416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201006601..201007999hg38UCSC Ensembl
Innerchr1:201006999..201007601hg38UCSC Ensembl
Outerchr1:201005601..201008999hg38UCSC Ensembl
chr1:200975729..200977127hg19UCSC Ensembl
Innerchr1:200976127..200976729hg19UCSC Ensembl
Outerchr1:200974729..200978127hg19UCSC Ensembl
chr1:199242352..199243750hg18UCSC Ensembl
Innerchr1:199243352..199242750hg18UCSC Ensembl
Outerchr1:199241352..199244750hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv267e59
Supporting Variantsessv8692093
SamplesNA19240
Known GenesKIF21B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3412457
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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