A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6415204



Internal ID9392607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25287704..25584249hg38UCSC Ensembl
chr22:25683671..25980216hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38296546
hg19296546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668239
Supporting Variants
SamplesNA19313
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6415204
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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