A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3389257



Internal ID14889538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178656424..178656424hg38UCSC Ensembl
Innerchr2:178656423..178656425hg38UCSC Ensembl
Outerchr2:178656374..178656474hg38UCSC Ensembl
chr2:179521151..179521151hg19UCSC Ensembl
Innerchr2:179521150..179521152hg19UCSC Ensembl
Outerchr2:179521101..179521201hg19UCSC Ensembl
chr2:179229396..179229396hg18UCSC Ensembl
Innerchr2:179229397..179229395hg18UCSC Ensembl
Outerchr2:179229346..179229446hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38194
hg19194
hg18194
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653270, essv8653271, essv8653272
SamplesNA12892, NA12891, NA12878
Known GenesMIR548N, TTN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3389257
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