A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14123894



Internal ID568061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:48355706..48948949hg38UCSC Ensembl
Innerchr11:48356206..48948449hg38UCSC Ensembl
Outerchr11:48354706..48949949hg38UCSC Ensembl
chr11:48377258..48970501hg19UCSC Ensembl
Innerchr11:48377758..48970001hg19UCSC Ensembl
Outerchr11:48376258..48971501hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38593244
hg19593244
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626235
Supporting Variants
SamplesHG00250
Known GenesOR4A47
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14123894
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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