A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669108



Internal ID9935213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28084664..28088595hg38UCSC Ensembl
chr22:28480652..28484583hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg383932
hg193932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5559553, essv5425491, essv5718978, essv5920310, essv6032803
SamplesHG00737, HG01069, NA19834, HG00638, HG00554
Known GenesTTC28
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669108
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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