A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676370



Internal ID9595789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47740285..47741686hg38UCSC Ensembl
chr11:47761837..47763238hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6276389, essv6351486, essv5478985, essv5549385, essv6079021, essv5990045, essv6518911, essv5677846, essv6509164, essv5571912, essv5999619, essv6143542, essv6561075, essv5781411, essv5804291, essv6001544, essv6164276, essv6178055, essv5617440
SamplesNA19819, NA18517, HG01461, HG01134, NA19355, NA19467, NA19197, NA19835, NA19700, HG00373, NA19360, NA19129, NA18498, NA18522, NA19909, NA20276, NA19346, NA19448, HG01354
Known GenesFNBP4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676370
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