A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5718228



Internal ID8695631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179280328..179297382hg38UCSC Ensembl
Outerchr1:179280291..179297432hg38UCSC Ensembl
Innerchr1:179249463..179266517hg19UCSC Ensembl
Outerchr1:179249426..179266567hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3817142
hg1917142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666168
Supporting Variants
SamplesNA18638
Known GenesSOAT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5718228
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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