A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594469



Internal ID6981789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224419767..224425150hg38UCSC Ensembl
Innerchr2:224419917..224425000hg38UCSC Ensembl
Outerchr2:224419617..224425300hg38UCSC Ensembl
chr2:225284484..225289867hg19UCSC Ensembl
Innerchr2:225284634..225289717hg19UCSC Ensembl
Outerchr2:225284334..225290017hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg385384
hg195384
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10865661
SamplesHG02398
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594469
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