A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9637725



Internal ID13246453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:13099043..13099062hg38UCSC Ensembl
Innerchr8:13099039..13099066hg38UCSC Ensembl
Outerchr8:13099020..13099085hg38UCSC Ensembl
chr8:12956552..12956571hg19UCSC Ensembl
Innerchr8:12956548..12956575hg19UCSC Ensembl
Outerchr8:12956529..12956594hg19UCSC Ensembl
chr8:13000923..13000942hg18UCSC Ensembl
Innerchr8:13000946..13000919hg18UCSC Ensembl
Outerchr8:13000900..13000965hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3389149
Supporting Variants
SamplesNA12812
Known GenesDLC1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9637725
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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