A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14085520



Internal ID2187492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:33393775..33543080hg38UCSC Ensembl
chr11:33415321..33564626hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38149306
hg19149306
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625883
Supporting Variants
SamplesHG01974
Known GenesKIAA1549L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14085520
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