A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9986505



Internal ID6355761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:79275468..79279133hg38UCSC Ensembl
Innerchr1:79275472..79279130hg38UCSC Ensembl
Outerchr1:79275465..79279137hg38UCSC Ensembl
chr1:79741153..79744818hg19UCSC Ensembl
Innerchr1:79741157..79744815hg19UCSC Ensembl
Outerchr1:79741150..79744822hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383666
hg193666
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586575
Supporting Variants
SamplesNA20287
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9986505
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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