A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653210



Internal ID13709104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241454084..241454084hg38UCSC Ensembl
Innerchr1:241454083..241454085hg38UCSC Ensembl
Outerchr1:241454034..241454134hg38UCSC Ensembl
chr1:241617384..241617384hg19UCSC Ensembl
Innerchr1:241617383..241617385hg19UCSC Ensembl
Outerchr1:241617334..241617434hg19UCSC Ensembl
chr1:239684007..239684007hg18UCSC Ensembl
Innerchr1:239684008..239684006hg18UCSC Ensembl
Outerchr1:239683957..239684057hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38804
hg19804
hg18804
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3323674
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653210
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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