A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13310534



Internal ID2152734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123869730..123873429hg38UCSC Ensembl
chr8:124881970..124885669hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618674
Supporting Variants
SamplesHG01948
Known GenesFER1L6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13310534
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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