A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305497



Internal ID15152445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157171630..157171631hg38UCSC Ensembl
Innerchr2:157171603..157171658hg38UCSC Ensembl
Outerchr2:157171602..157171659hg38UCSC Ensembl
chr2:158028142..158028143hg19UCSC Ensembl
Innerchr2:158028115..158028170hg19UCSC Ensembl
Outerchr2:158028114..158028171hg19UCSC Ensembl
chr2:157736388..157736389hg18UCSC Ensembl
Innerchr2:157736416..157736361hg18UCSC Ensembl
Outerchr2:157736360..157736417hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38102
hg19102
hg18102
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7763187, essv7745559, essv7742703, essv7754144, essv7743018, essv7754988, essv7742486, essv7760343, essv7754664, essv7759863, essv7741763, essv7751817, essv7758515, essv7750220, essv7747620, essv7753428, essv7742109, essv7756040, essv7750539, essv7740483, essv7742113, essv7755389, essv7752269, essv7748845, essv7747094, essv7740753, essv7749726
SamplesNA18502, NA18861, NA18504, NA18870, NA07357, NA18550, NA18519, NA18960, NA18571, NA18964, NA19172, NA18520, NA19239, NA18907, NA19114, NA11919, NA18853, NA19099, NA19257, NA18523, NA18542, NA18909, NA19108, NA19147, NA12763, NA19093, NA19116
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305497
Frequency
Sample Size185
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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