A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13858540



Internal ID6862945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:69878482..69986873hg38UCSC Ensembl
chr10:71638238..71746629hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38108392
hg19108392
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623757
Supporting Variants
SamplesNA21092
Known GenesCOL13A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13858540
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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