A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618674



Internal ID7005556
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13310536, essv13310535, essv13310533, essv13310532, essv13310534
SamplesHG00351, NA18567, HG01948, HG00350, NA19431
Known GenesFER1L6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618674
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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