A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10166346



Internal ID168162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:159957274..159959458hg38UCSC Ensembl
Innerchr1:159957315..159959417hg38UCSC Ensembl
Outerchr1:159957233..159959499hg38UCSC Ensembl
chr1:159927064..159929248hg19UCSC Ensembl
Innerchr1:159927105..159929207hg19UCSC Ensembl
Outerchr1:159927023..159929289hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg382185
hg192185
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587706
Supporting Variants
SamplesHG01695
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10166346
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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