A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10817768



Internal ID5498107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:198821538..198831424hg38UCSC Ensembl
Innerchr2:198821595..198831367hg38UCSC Ensembl
Outerchr2:198821481..198831481hg38UCSC Ensembl
chr2:199686262..199696148hg19UCSC Ensembl
Innerchr2:199686319..199696091hg19UCSC Ensembl
Outerchr2:199686205..199696205hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg389887
hg199887
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593932
Supporting Variants
SamplesNA18984
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10817768
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