A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14121321



Internal ID5854949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47598455..47601873hg38UCSC Ensembl
Innerchr11:47598471..47601857hg38UCSC Ensembl
Outerchr11:47598439..47601889hg38UCSC Ensembl
chr11:47620007..47623425hg19UCSC Ensembl
Innerchr11:47620023..47623409hg19UCSC Ensembl
Outerchr11:47619991..47623441hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg383419
hg193419
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626205
Supporting Variants
SamplesNA19235
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14121321
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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