A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601813



Internal ID6988849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:113526478..113528801hg38UCSC Ensembl
Innerchr4:113526498..113528782hg38UCSC Ensembl
Outerchr4:113526459..113528821hg38UCSC Ensembl
chr4:114447634..114449957hg19UCSC Ensembl
Innerchr4:114447654..114449938hg19UCSC Ensembl
Outerchr4:114447615..114449977hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg382324
hg192324
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11567452, essv11567453, essv11567454
SamplesHG02505, NA19922, HG03432
Known GenesCAMK2D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601813
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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