A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662560



Internal ID9928665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25296111..25592625hg38UCSC Ensembl
chr22:25692078..25988592hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38296515
hg19296515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv828e199
Supporting Variantsessv6405847, essv6459957, essv5778032, essv5891746, essv6306852, essv6436512, essv6294095, essv5533891, essv5655726
SamplesNA19701, NA12717, HG00243, HG00113, NA18520, NA10847, NA20760, NA18871, HG00312
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662560
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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