A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600491



Internal ID6987534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52121651..52156360hg38UCSC Ensembl
chr4:52987817..53022526hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3834710
hg1934710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11430729
SamplesHG01323
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600491
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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