A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593177



Internal ID6633457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162204243..162287181hg38UCSC Ensembl
chr2:163060753..163143691hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3882939
hg1982939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10742700
SamplesNA19355
Known GenesFAP, IFIH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593177
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