A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586346



Internal ID6626659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69909712..69924943hg38UCSC Ensembl
chr1:70375395..70390626hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3815232
hg1915232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9963920, essv9963919, essv9963918
SamplesHG00330, HG00331, HG02188
Known GenesLRRC7, PIN1P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586346
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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