A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16263837



Internal ID6265653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14095581..14339672hg38UCSC Ensembl
chr21:15467902..15711993hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38244092
hg19244092
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646422
Supporting Variants
SamplesHG02136
Known GenesABCC13, LIPI, RBM11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16263837
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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