A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661590



Internal ID9927695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224296632..224301952hg38UCSC Ensembl
chr2:225161349..225166669hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg385321
hg195321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6087763, essv6542067, essv5701934, essv6541825, essv6541473, essv6404254, essv6087589, essv5514005, essv5973191
SamplesNA19701, HG01462, NA19466, NA19381, NA19130, NA19469, NA19625, NA19474, NA19213
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661590
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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