A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10186621



Internal ID6461866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170490253..170492434hg38UCSC Ensembl
Innerchr1:170490286..170492401hg38UCSC Ensembl
Outerchr1:170490220..170492467hg38UCSC Ensembl
chr1:170459394..170461575hg19UCSC Ensembl
Innerchr1:170459427..170461542hg19UCSC Ensembl
Outerchr1:170459361..170461608hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg382182
hg192182
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587898
Supporting Variants
SamplesNA20517
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10186621
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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