A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10181180



Internal ID1818217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166756285..166765434hg38UCSC Ensembl
Innerchr1:166756323..166765397hg38UCSC Ensembl
Outerchr1:166756248..166765472hg38UCSC Ensembl
chr1:166725522..166734671hg19UCSC Ensembl
Innerchr1:166725560..166734634hg19UCSC Ensembl
Outerchr1:166725485..166734709hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg389150
hg199150
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587835
Supporting Variants
SamplesHG01694
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10181180
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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