A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10517446



Internal ID4723741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57614903..57623031hg38UCSC Ensembl
Innerchr2:57615403..57622531hg38UCSC Ensembl
Outerchr2:57613903..57624031hg38UCSC Ensembl
chr2:57842038..57850166hg19UCSC Ensembl
Innerchr2:57842538..57849666hg19UCSC Ensembl
Outerchr2:57841038..57851166hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg388129
hg198129
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590942
Supporting Variants
SamplesNA06985
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10517446
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