A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10081494



Internal ID83310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117050748..117052349hg38UCSC Ensembl
Innerchr1:117050748..117052349hg38UCSC Ensembl
Outerchr1:117050489..117052606hg38UCSC Ensembl
chr1:117593370..117594971hg19UCSC Ensembl
Innerchr1:117593370..117594971hg19UCSC Ensembl
Outerchr1:117593111..117595228hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg381602
hg191602
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587307
Supporting Variants
SamplesNA18618
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10081494
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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