A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587560



Internal ID6974983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152524200..152550485hg38UCSC Ensembl
chr1:152496676..152522961hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3826286
hg1926286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10146210
SamplesHG01504
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587560
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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