A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599329



Internal ID6639594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197942883..197960815hg38UCSC Ensembl
chr3:197669754..197687686hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3817933
hg1917933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11312927, essv11312929, essv11312928, essv11312931, essv11312930
SamplesHG02541, HG03604, NA19184, NA19031, HG00410
Known GenesIQCG, LMLN, RPL35A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599329
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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