A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674013



Internal ID15115615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36009085..36009095hg38UCSC Ensembl
Innerchr1:36009079..36009099hg38UCSC Ensembl
Outerchr1:36009069..36009109hg38UCSC Ensembl
chr1:36474686..36474696hg19UCSC Ensembl
Innerchr1:36474680..36474700hg19UCSC Ensembl
Outerchr1:36474670..36474710hg19UCSC Ensembl
chr1:36247273..36247283hg18UCSC Ensembl
Innerchr1:36247287..36247267hg18UCSC Ensembl
Outerchr1:36247257..36247297hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3335594
Supporting Variants
SamplesNA19240
Known GenesAGO3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674013
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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