A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600511



Internal ID6640773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52853611..52866908hg38UCSC Ensembl
Innerchr4:52853636..52866884hg38UCSC Ensembl
Outerchr4:52853587..52866933hg38UCSC Ensembl
chr4:53719778..53733075hg19UCSC Ensembl
Innerchr4:53719803..53733051hg19UCSC Ensembl
Outerchr4:53719754..53733100hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3813298
hg1913298
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1000e214
Supporting Variantsessv11432610, essv11432609, essv11432611
SamplesHG00272, NA19320, HG00357
Known GenesRASL11B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600511
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