A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666614



Internal ID9932719
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5952173, essv6584116, essv6008468, essv6088831, essv5692185, essv6481296, essv5908702, essv6324171, essv5709684
SamplesHG01173, HG01066, HG00641, NA19651, NA19717, NA19663, HG01357, HG01375, HG01137
Known GenesSPAG16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666614
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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