A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410758



Internal ID15257718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201006501..201008199hg38UCSC Ensembl
Innerchr1:201007199..201007501hg38UCSC Ensembl
Outerchr1:201005501..201009199hg38UCSC Ensembl
chr1:200975629..200977327hg19UCSC Ensembl
Innerchr1:200976327..200976629hg19UCSC Ensembl
Outerchr1:200974629..200978327hg19UCSC Ensembl
chr1:199242252..199243950hg18UCSC Ensembl
Innerchr1:199243252..199242950hg18UCSC Ensembl
Outerchr1:199241252..199244950hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv267e59
Supporting Variantsessv8692092
SamplesNA19238
Known GenesKIF21B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410758
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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