A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10157914



Internal ID839109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158222398..158233439hg38UCSC Ensembl
Innerchr1:158222398..158233439hg38UCSC Ensembl
Outerchr1:158221898..158233939hg38UCSC Ensembl
chr1:158192188..158203229hg19UCSC Ensembl
Innerchr1:158192188..158203229hg19UCSC Ensembl
Outerchr1:158191688..158203729hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3811042
hg1911042
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587661
Supporting Variants
SamplesHG00436
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10157914
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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