A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv700e214



Internal ID22756594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57293125..57429515hg38UCSC Ensembl
chr2:57520260..57656650hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38136391
hg19136391
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3590928, esv3590927
SamplesNA07347, NA20544
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv700e214
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