A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14078487



Internal ID712108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:30721910..30777332hg38UCSC Ensembl
chr11:30743457..30798879hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg3855423
hg1955423
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625818
Supporting Variants
SamplesHG00334
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14078487
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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