A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593782



Internal ID6981105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:192321161..192327112hg38UCSC Ensembl
Innerchr2:192321204..192327070hg38UCSC Ensembl
Outerchr2:192321119..192327155hg38UCSC Ensembl
chr2:193185887..193191838hg19UCSC Ensembl
Innerchr2:193185930..193191796hg19UCSC Ensembl
Outerchr2:193185845..193191881hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg385952
hg195952
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10805885
SamplesNA19473
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593782
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