A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640635



Internal ID6680722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43747832..43765570hg38UCSC Ensembl
chr17:41825200..41842938hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3817739
hg1917739
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15680575
SamplesNA20856
Known GenesSOST
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640635
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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