A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14109705



Internal ID5187508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:42483966..42488626hg38UCSC Ensembl
Innerchr11:42483991..42488601hg38UCSC Ensembl
Outerchr11:42483941..42488651hg38UCSC Ensembl
chr11:42505516..42510176hg19UCSC Ensembl
Innerchr11:42505541..42510151hg19UCSC Ensembl
Outerchr11:42505491..42510201hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg384661
hg194661
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626117
Supporting Variants
SamplesNA18609
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14109705
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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