A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658587



Internal ID9924692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38964531..38966138hg38UCSC Ensembl
chr22:39360536..39362143hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381608
hg191608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6108153, essv6417623, essv6482358, essv5775992, essv6080195, essv6464069, essv5420381, essv6508006, essv5433783, essv5662773, essv6594600
SamplesHG00542, HG00449, HG00702, HG00448, NA18544, NA19070, HG00436, NA18637, HG00500, NA18570, HG00656
Known GenesAPOBEC3A_B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658587
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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