A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10274135



Internal ID275951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206641312..206642359hg38UCSC Ensembl
Innerchr1:206641312..206642359hg38UCSC Ensembl
Outerchr1:206640981..206642726hg38UCSC Ensembl
chr1:206814657..206815704hg19UCSC Ensembl
Innerchr1:206814657..206815704hg19UCSC Ensembl
Outerchr1:206814326..206816071hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381048
hg191048
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588657
Supporting Variants
SamplesHG01121
Known GenesDYRK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10274135
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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