A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678833



Internal ID13321538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169737908..169737927hg38UCSC Ensembl
Innerchr4:169737904..169737931hg38UCSC Ensembl
Outerchr4:169737885..169737950hg38UCSC Ensembl
chr4:170659059..170659078hg19UCSC Ensembl
Innerchr4:170659055..170659082hg19UCSC Ensembl
Outerchr4:170659036..170659101hg19UCSC Ensembl
chr4:170895634..170895653hg18UCSC Ensembl
Innerchr4:170895657..170895630hg18UCSC Ensembl
Outerchr4:170895611..170895676hg18UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3351919
Supporting Variants
SamplesNA12878
Known GenesC4orf27
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678833
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer