A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7838788



Internal ID15007540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132858893..132858894hg38UCSC Ensembl
Innerchr3:132858842..132858945hg38UCSC Ensembl
Outerchr3:132858841..132858946hg38UCSC Ensembl
chr3:132577737..132577738hg19UCSC Ensembl
Innerchr3:132577686..132577789hg19UCSC Ensembl
Outerchr3:132577685..132577790hg19UCSC Ensembl
chr3:134060427..134060428hg18UCSC Ensembl
Innerchr3:134060479..134060376hg18UCSC Ensembl
Outerchr3:134060375..134060480hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38127
hg19127
hg18127
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309169
Supporting Variants
SamplesNA19238
Known GenesNPHP3-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7838788
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