A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16443310



Internal ID6445126
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647931
Supporting Variants
SamplesNA18980
Known GenesFBLN1, RIBC2, SMC1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16443310
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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