A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585925



Internal ID6626239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45992755..46084727hg38UCSC Ensembl
chr1:46458427..46550399hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3891973
hg1991973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9925866
SamplesHG02675
Known GenesMAST2, PIK3R3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585925
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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