A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364403



Internal ID14864664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201006401..201009199hg38UCSC Ensembl
Innerchr1:201007401..201008199hg38UCSC Ensembl
Outerchr1:201005401..201010199hg38UCSC Ensembl
chr1:200975529..200978327hg19UCSC Ensembl
Innerchr1:200976529..200977327hg19UCSC Ensembl
Outerchr1:200974529..200979327hg19UCSC Ensembl
chr1:199242152..199244950hg18UCSC Ensembl
Innerchr1:199243152..199243950hg18UCSC Ensembl
Outerchr1:199241152..199245950hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382799
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692091
SamplesNA19239
Known GenesKIF21B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364403
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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