A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10416098



Internal ID4586633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:15243366..15250935hg38UCSC Ensembl
Innerchr2:15243378..15250924hg38UCSC Ensembl
Outerchr2:15243355..15250947hg38UCSC Ensembl
chr2:15383490..15391059hg19UCSC Ensembl
Innerchr2:15383502..15391048hg19UCSC Ensembl
Outerchr2:15383479..15391071hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg387570
hg197570
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589910
Supporting Variants
SamplesHG04098
Known GenesNBAS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10416098
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