A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11359087



Internal ID6191620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:12710838..12712428hg38UCSC Ensembl
Innerchr4:12710838..12712428hg38UCSC Ensembl
Outerchr4:12710659..12712610hg38UCSC Ensembl
chr4:12712462..12714052hg19UCSC Ensembl
Innerchr4:12712462..12714052hg19UCSC Ensembl
Outerchr4:12712283..12714234hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg381591
hg191591
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599688
Supporting Variants
SamplesNA19723
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11359087
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