A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5952173



Internal ID9762105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214124215..214129137hg38UCSC Ensembl
chr2:214988939..214993861hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg384923
hg194923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666614
Supporting Variants
SamplesNA19717
Known GenesSPAG16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5952173
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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