A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14214042



Internal ID2493864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75574476..75576873hg38UCSC Ensembl
Innerchr11:75574523..75576826hg38UCSC Ensembl
Outerchr11:75574429..75576920hg38UCSC Ensembl
chr11:75285521..75287918hg19UCSC Ensembl
Innerchr11:75285568..75287871hg19UCSC Ensembl
Outerchr11:75285474..75287965hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg382398
hg192398
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626857
Supporting Variants
SamplesHG02215
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14214042
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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