A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3442112



Internal ID15289065
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 StatusM
Merged Variants
Supporting Variantsessv8915319, essv8915322, essv8915320, essv8915321
SamplesNA12004, NA11992, NA12287, NA18853
Known GenesPDIA5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3442112
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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