A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597931



Internal ID6985068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:139168182..139172702hg38UCSC Ensembl
Innerchr3:139168250..139172634hg38UCSC Ensembl
Outerchr3:139168114..139172770hg38UCSC Ensembl
chr3:138887024..138891544hg19UCSC Ensembl
Innerchr3:138887092..138891476hg19UCSC Ensembl
Outerchr3:138886956..138891612hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg384521
hg194521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11160810
SamplesNA18566
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597931
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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