A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647682



Internal ID7034422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36224551..36308255hg38UCSC Ensembl
chr22:36620597..36704301hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3883705
hg1983705
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16414539, essv16414541, essv16414542, essv16414536, essv16414538, essv16414537, essv16414540, essv16414535
SamplesNA19701, HG03518, NA19372, HG02819, HG02820, NA19042, HG03077, HG02284
Known GenesAPOL1, APOL2, MIR6819, MYH9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647682
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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