A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658718



Internal ID9924823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227404142..227405287hg38UCSC Ensembl
chr2:228268858..228270003hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg381146
hg191146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv762e199
Supporting Variantsessv6070023, essv5666854, essv5635619, essv6392991, essv6332427, essv5830207, essv6321043, essv5406366, essv6338665, essv6409516, essv6252699, essv5479978, essv5483400, essv6203130
SamplesHG01462, NA20356, NA19382, NA19197, NA19904, NA19445, NA19247, NA19461, NA19834, NA19380, NA19835, NA19472, NA19223, NA19093
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658718
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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