A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590518



Internal ID6977847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43074757..43079008hg38UCSC Ensembl
Innerchr2:43074774..43078992hg38UCSC Ensembl
Outerchr2:43074741..43079025hg38UCSC Ensembl
chr2:43301895..43306146hg19UCSC Ensembl
Innerchr2:43301912..43306130hg19UCSC Ensembl
Outerchr2:43301879..43306163hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg384252
hg194252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10481739, essv10481740
SamplesHG03629, NA20858
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590518
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer