A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14189735



Internal ID1468461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:65023467..65037106hg38UCSC Ensembl
Innerchr11:65023617..65036956hg38UCSC Ensembl
Outerchr11:65023317..65037256hg38UCSC Ensembl
chr11:64790939..64804578hg19UCSC Ensembl
Innerchr11:64791089..64804428hg19UCSC Ensembl
Outerchr11:64790789..64804728hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3813640
hg1913640
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626669
Supporting Variants
SamplesHG01356
Known GenesARL2-SNX15, SNX15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14189735
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