A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594657



Internal ID6634933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232565319..232566190hg38UCSC Ensembl
Innerchr2:232565328..232566182hg38UCSC Ensembl
Outerchr2:232565311..232566199hg38UCSC Ensembl
chr2:233430029..233430900hg19UCSC Ensembl
Innerchr2:233430038..233430892hg19UCSC Ensembl
Outerchr2:233430021..233430909hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38872
hg19872
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10877650
SamplesNA21128
Known GenesEIF4E2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594657
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