A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16435363



Internal ID6437179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43185465..43295588hg38UCSC Ensembl
chr22:43581471..43691594hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38110124
hg19110124
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647858
Supporting Variants
SamplesHG02013
Known GenesSCUBE1, TTLL12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16435363
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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