A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647931



Internal ID6687984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45382351..45517601hg38UCSC Ensembl
chr22:45778231..45913481hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38135251
hg19135251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16443310
SamplesNA18980
Known GenesFBLN1, RIBC2, SMC1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647931
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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