A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585927



Internal ID6626241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46030708..46154212hg38UCSC Ensembl
chr1:46496380..46619884hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38123505
hg19123505
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv19e214
Supporting Variantsessv9925869, essv9925868
SamplesHG02675, NA20792
Known GenesMAST2, PIK3R3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585927
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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