A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589689



Internal ID6977018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4730035..4739588hg38UCSC Ensembl
Innerchr2:4730091..4739532hg38UCSC Ensembl
Outerchr2:4729979..4739644hg38UCSC Ensembl
chr2:4777625..4787178hg19UCSC Ensembl
Innerchr2:4777681..4787122hg19UCSC Ensembl
Outerchr2:4777569..4787234hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg389554
hg199554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10400366
SamplesHG00344
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589689
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