A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10160048



Internal ID161864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158727438..158755887hg38UCSC Ensembl
Innerchr1:158727438..158755887hg38UCSC Ensembl
Outerchr1:158726938..158756387hg38UCSC Ensembl
chr1:158697228..158725677hg19UCSC Ensembl
Innerchr1:158697228..158725677hg19UCSC Ensembl
Outerchr1:158696728..158726177hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3828450
hg1928450
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587680
Supporting Variants
SamplesNA19384
Known GenesOR6K6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10160048
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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