A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1000e214



Internal ID20122423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52853611..52866908hg38UCSC Ensembl
chr4:53719778..53733075hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3813298
hg1913298
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3600512, esv3600511
SamplesHG00272, NA19320, HG00357
Known GenesRASL11B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1000e214
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