A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10159960



Internal ID6515953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158522426..158528077hg38UCSC Ensembl
Innerchr1:158522426..158528077hg38UCSC Ensembl
Outerchr1:158522312..158528301hg38UCSC Ensembl
chr1:158492216..158497867hg19UCSC Ensembl
Innerchr1:158492216..158497867hg19UCSC Ensembl
Outerchr1:158492102..158498091hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg385652
hg195652
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587674
Supporting Variants
SamplesNA20539
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10159960
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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