A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8915320



Internal ID13438868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123080876..123080961hg38UCSC Ensembl
Innerchr3:123080897..123080940hg38UCSC Ensembl
Outerchr3:123080855..123080982hg38UCSC Ensembl
chr3:122799723..122799808hg19UCSC Ensembl
Innerchr3:122799744..122799787hg19UCSC Ensembl
Outerchr3:122799702..122799829hg19UCSC Ensembl
chr3:124282413..124282498hg18UCSC Ensembl
Innerchr3:124282434..124282477hg18UCSC Ensembl
Outerchr3:124282392..124282519hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3442112
Supporting Variants
SamplesNA12287
Known GenesPDIA5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8915320
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