A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594407



Internal ID6634683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221505295..221537512hg38UCSC Ensembl
Innerchr2:221505295..221537512hg38UCSC Ensembl
Outerchr2:221505146..221537566hg38UCSC Ensembl
chr2:222370015..222402232hg19UCSC Ensembl
Innerchr2:222370015..222402232hg19UCSC Ensembl
Outerchr2:222369866..222402286hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3832218
hg1932218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10861914, essv10861913
SamplesNA18856, NA19096
Known GenesEPHA4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594407
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