A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11199947



Internal ID1520096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160962484..160968224hg38UCSC Ensembl
Innerchr3:160962484..160968224hg38UCSC Ensembl
Outerchr3:160962207..160968458hg38UCSC Ensembl
chr3:160680272..160686012hg19UCSC Ensembl
Innerchr3:160680272..160686012hg19UCSC Ensembl
Outerchr3:160679995..160686246hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg385741
hg195741
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598396
Supporting Variants
SamplesHG01395
Known GenesPPM1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11199947
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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