A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593445



Internal ID6980769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176455211..176461145hg38UCSC Ensembl
Innerchr2:176455232..176461124hg38UCSC Ensembl
Outerchr2:176455190..176461166hg38UCSC Ensembl
chr2:177319939..177325873hg19UCSC Ensembl
Innerchr2:177319960..177325852hg19UCSC Ensembl
Outerchr2:177319918..177325894hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385935
hg195935
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10770105
SamplesHG03461
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593445
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