A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10159953



Internal ID721382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158521990..158543014hg38UCSC Ensembl
Innerchr1:158521990..158543014hg38UCSC Ensembl
Outerchr1:158521490..158543514hg38UCSC Ensembl
chr1:158491780..158512804hg19UCSC Ensembl
Innerchr1:158491780..158512804hg19UCSC Ensembl
Outerchr1:158491280..158513304hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3821025
hg1921025
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587673
Supporting Variants
SamplesHG00338
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10159953
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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