A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589799



Internal ID6630088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10489422..10495995hg38UCSC Ensembl
Innerchr2:10489422..10495995hg38UCSC Ensembl
Outerchr2:10489193..10496072hg38UCSC Ensembl
chr2:10629548..10636121hg19UCSC Ensembl
Innerchr2:10629548..10636121hg19UCSC Ensembl
Outerchr2:10629319..10636198hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg386574
hg196574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10406926, essv10406925
SamplesHG01139, NA19712
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589799
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