A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10628732



Internal ID4025366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112438536..112449961hg38UCSC Ensembl
Innerchr2:112438545..112449953hg38UCSC Ensembl
Outerchr2:112438528..112449970hg38UCSC Ensembl
chr2:113196113..113207538hg19UCSC Ensembl
Innerchr2:113196122..113207530hg19UCSC Ensembl
Outerchr2:113196105..113207547hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3811426
hg1911426
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592006
Supporting Variants
SamplesHG03680
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10628732
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