A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10447565



Internal ID449381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32068016..32070194hg38UCSC Ensembl
Innerchr2:32068016..32070194hg38UCSC Ensembl
Outerchr2:32067831..32070382hg38UCSC Ensembl
chr2:32293085..32295263hg19UCSC Ensembl
Innerchr2:32293085..32295263hg19UCSC Ensembl
Outerchr2:32292900..32295451hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382179
hg192179
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590238
Supporting Variants
SamplesNA19984
Known GenesSPAST
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10447565
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