A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10153622



Internal ID5382490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157117460..157118711hg38UCSC Ensembl
Innerchr1:157117460..157118711hg38UCSC Ensembl
Outerchr1:157117284..157118885hg38UCSC Ensembl
chr1:157087252..157088503hg19UCSC Ensembl
Innerchr1:157087252..157088503hg19UCSC Ensembl
Outerchr1:157087076..157088677hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381252
hg191252
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587646
Supporting Variants
SamplesNA18924
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10153622
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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