A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594605



Internal ID6981925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230599502..230601853hg38UCSC Ensembl
Innerchr2:230599560..230601796hg38UCSC Ensembl
Outerchr2:230599445..230601911hg38UCSC Ensembl
chr2:231464217..231466568hg19UCSC Ensembl
Innerchr2:231464275..231466511hg19UCSC Ensembl
Outerchr2:231464160..231466626hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg382352
hg192352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10875020
SamplesNA19030
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594605
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