A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8915106



Internal ID14562145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:115664232..115664243hg38UCSC Ensembl
Innerchr3:115664225..115664250hg38UCSC Ensembl
Outerchr3:115664214..115664261hg38UCSC Ensembl
chr3:115383079..115383090hg19UCSC Ensembl
Innerchr3:115383072..115383097hg19UCSC Ensembl
Outerchr3:115383061..115383108hg19UCSC Ensembl
chr3:116865769..116865780hg18UCSC Ensembl
Innerchr3:116865787..116865762hg18UCSC Ensembl
Outerchr3:116865751..116865798hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3354785
Supporting Variants
SamplesNA18951
Known GenesGAP43
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8915106
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