A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603500



Internal ID6990531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185472129..185501859hg38UCSC Ensembl
chr4:186393283..186423013hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3829731
hg1929731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11739568, essv11739567, essv11739566
SamplesHG03224, HG02477, HG03461
Known GenesPDLIM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603500
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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