A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14073386



Internal ID3740725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:28549254..28549716hg38UCSC Ensembl
Innerchr11:28549254..28549716hg38UCSC Ensembl
Outerchr11:28548986..28549971hg38UCSC Ensembl
chr11:28570801..28571263hg19UCSC Ensembl
Innerchr11:28570801..28571263hg19UCSC Ensembl
Outerchr11:28570533..28571518hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38463
hg19463
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625786
Supporting Variants
SamplesHG03372
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14073386
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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