A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16385148



Internal ID6386964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23578189..23637770hg38UCSC Ensembl
chr22:23920376..23979957hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3859582
hg1959582
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647408
Supporting Variants
SamplesHG02943
Known GenesC22orf43, IGLL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16385148
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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