A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6233219



Internal ID9672392
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 StatusS
Merged Variantsesv2666545
Supporting Variants
SamplesNA19401
Known GenesSPAG16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6233219
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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