A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647739



Internal ID7034479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38642799..38654014hg38UCSC Ensembl
chr22:39038804..39050019hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3811216
hg1911216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16423903, essv16423902, essv16423904
SamplesNA12414, HG00282, HG01512
Known GenesFAM227A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647739
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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