A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11567482



Internal ID1035553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:113722759..113853762hg38UCSC Ensembl
chr4:114643915..114774918hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38131004
hg19131004
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601817
Supporting Variants
SamplesHG00654
Known GenesCAMK2D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11567482
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