A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647859



Internal ID6687912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43185975..43295092hg38UCSC Ensembl
chr22:43581981..43691098hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38109118
hg19109118
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv844e214
Supporting Variantsessv16435365
SamplesHG02013
Known GenesSCUBE1, TTLL12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647859
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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