A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14034254



Internal ID4036070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14852130..14898409hg38UCSC Ensembl
chr11:14873676..14919955hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg3846280
hg1946280
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625429
Supporting Variants
SamplesNA12889
Known GenesCYP2R1, PDE3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14034254
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