A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14293371



Internal ID5894617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119946178..119949540hg38UCSC Ensembl
Innerchr11:119946328..119949390hg38UCSC Ensembl
Outerchr11:119946028..119949690hg38UCSC Ensembl
chr11:119816887..119820249hg19UCSC Ensembl
Innerchr11:119817037..119820099hg19UCSC Ensembl
Outerchr11:119816737..119820399hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383363
hg193363
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627897
Supporting Variants
SamplesNA19315
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14293371
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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