A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14292690



Internal ID452071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117325126..117356070hg38UCSC Ensembl
Innerchr11:117325276..117355920hg38UCSC Ensembl
Outerchr11:117324976..117356220hg38UCSC Ensembl
chr11:117195842..117226786hg19UCSC Ensembl
Innerchr11:117195992..117226636hg19UCSC Ensembl
Outerchr11:117195692..117226936hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3830945
hg1930945
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627849
Supporting Variants
SamplesHG00142
Known GenesCEP164
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14292690
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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