A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3438023



Internal ID14938290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174137888..174137988hg38UCSC Ensembl
Innerchr2:174137921..174137952hg38UCSC Ensembl
Outerchr2:174137821..174138052hg38UCSC Ensembl
chr2:175002616..175002716hg19UCSC Ensembl
Innerchr2:175002649..175002680hg19UCSC Ensembl
Outerchr2:175002549..175002780hg19UCSC Ensembl
chr2:174710862..174710962hg18UCSC Ensembl
Innerchr2:174710926..174710895hg18UCSC Ensembl
Outerchr2:174710795..174711026hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674550, essv8674551, essv8674549
SamplesNA19239, NA12878, NA19240
Known GenesOLA1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3438023
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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