A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11984554



Internal ID954681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:97223673..97293571hg38UCSC Ensembl
chr5:96559377..96629275hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3869899
hg1969899
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605876
Supporting Variants
SamplesHG00584
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11984554
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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