A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14122414



Internal ID5414860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47819548..47821887hg38UCSC Ensembl
Innerchr11:47819593..47821843hg38UCSC Ensembl
Outerchr11:47819504..47821932hg38UCSC Ensembl
chr11:47841100..47843439hg19UCSC Ensembl
Innerchr11:47841145..47843395hg19UCSC Ensembl
Outerchr11:47841056..47843484hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg382340
hg192340
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626209
Supporting Variants
SamplesNA18949
Known GenesNUP160
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14122414
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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