A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11948253



Internal ID5155971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77543208..77548061hg38UCSC Ensembl
chr5:76839033..76843886hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg384854
hg194854
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605489
Supporting Variants
SamplesNA18591
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11948253
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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