A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669411



Internal ID9588830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:135978191..135982301hg38UCSC Ensembl
chr3:135697033..135701143hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg384111
hg194111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5918087, essv5416815, essv5720997, essv5906551, essv5467122, essv5435472, essv5782237, essv5698407, essv5544784, essv6160359, essv5754748, essv6575144, essv6571885, essv6250904, essv5811578, essv6256404, essv5595229, essv6170980, essv5920710
SamplesNA19430, NA18489, NA19438, NA19428, NA19107, NA19398, NA19429, NA19247, NA19313, NA19189, NA18487, NA19711, NA19138, NA19818, NA19452, NA19130, NA19381, NA19448, NA19468
Known GenesPPP2R3A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669411
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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