A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10174619



Internal ID4550173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:163384051..163388466hg38UCSC Ensembl
Innerchr1:163384066..163388452hg38UCSC Ensembl
Outerchr1:163384037..163388481hg38UCSC Ensembl
chr1:163353841..163358256hg19UCSC Ensembl
Innerchr1:163353856..163358242hg19UCSC Ensembl
Outerchr1:163353827..163358271hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg384416
hg194416
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587767
Supporting Variants
SamplesHG04047
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10174619
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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