A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594802



Internal ID6635078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240487835..240574802hg38UCSC Ensembl
Innerchr2:240487985..240574652hg38UCSC Ensembl
Outerchr2:240487685..240574952hg38UCSC Ensembl
chr2:241427252..241514219hg19UCSC Ensembl
Innerchr2:241427402..241514069hg19UCSC Ensembl
Outerchr2:241427102..241514369hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3886968
hg1986968
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10890921
SamplesNA18942
Known GenesANKMY1, DUSP28, RNPEPL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594802
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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