A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3334685



Internal ID15181674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42544475..42544484hg38UCSC Ensembl
Innerchr2:42544477..42544482hg38UCSC Ensembl
Outerchr2:42544473..42544486hg38UCSC Ensembl
chr2:42771615..42771624hg19UCSC Ensembl
Innerchr2:42771617..42771622hg19UCSC Ensembl
Outerchr2:42771613..42771626hg19UCSC Ensembl
chr2:42625119..42625128hg18UCSC Ensembl
Innerchr2:42625121..42625126hg18UCSC Ensembl
Outerchr2:42625117..42625130hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863893
SamplesNA12005
Known GenesMTA3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3334685
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