A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666545



Internal ID9932650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213567147..213573265hg38UCSC Ensembl
chr2:214431871..214437989hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg386119
hg196119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6268438, essv6233219, essv6324731, essv5837249, essv6342869
SamplesNA18502, NA19399, NA19446, NA19401, NA19334
Known GenesSPAG16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666545
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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