A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7862806



Internal ID14049134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38209427..38209477hg38UCSC Ensembl
Innerchr8:38209429..38209475hg38UCSC Ensembl
Outerchr8:38209425..38209479hg38UCSC Ensembl
chr8:38066945..38066995hg19UCSC Ensembl
Innerchr8:38066947..38066993hg19UCSC Ensembl
Outerchr8:38066943..38066997hg19UCSC Ensembl
chr8:38186102..38186152hg18UCSC Ensembl
Innerchr8:38186104..38186150hg18UCSC Ensembl
Outerchr8:38186100..38186154hg18UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3430937
Supporting Variants
SamplesNA18871
Known GenesBAG4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7862806
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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