A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596040



Internal ID6636314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44911009..44916266hg38UCSC Ensembl
chr3:44952501..44957758hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385258
hg195258
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10993620, essv10993621
SamplesHG04202, NA12272
Known GenesTGM4, ZDHHC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596040
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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