A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10798753



Internal ID800569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190455167..190455940hg38UCSC Ensembl
Innerchr2:190455192..190455916hg38UCSC Ensembl
Outerchr2:190455143..190455965hg38UCSC Ensembl
chr2:191319893..191320666hg19UCSC Ensembl
Innerchr2:191319918..191320642hg19UCSC Ensembl
Outerchr2:191319869..191320691hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38774
hg19774
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593756
Supporting Variants
SamplesHG01982
Known GenesMFSD6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10798753
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