A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668709



Internal ID9588128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105772055..105774973hg38UCSC Ensembl
chr2:106388512..106391430hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg382919
hg192919
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5424788, essv5415050, essv5712213, essv6494558
SamplesHG00117, NA19472, NA20756, NA11830
Known GenesNCK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668709
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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