A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600908



Internal ID6987947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69423317..69517912hg38UCSC Ensembl
chr4:70289035..70383630hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3894596
hg1994596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11490139, essv11490138, essv11490137, essv11490140, essv11490136
SamplesHG04059, HG03868, HG03968, HG03907, HG03729
Known GenesUGT2B4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600908
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer