A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647858



Internal ID6687911
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv844e214
Supporting Variantsessv16435364, essv16435363
SamplesNA18567, HG02013
Known GenesSCUBE1, TTLL12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647858
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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