A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598583



Internal ID6985719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168651879..168666771hg38UCSC Ensembl
Innerchr3:168651879..168666771hg38UCSC Ensembl
Outerchr3:168651662..168666930hg38UCSC Ensembl
chr3:168369667..168384559hg19UCSC Ensembl
Innerchr3:168369667..168384559hg19UCSC Ensembl
Outerchr3:168369450..168384718hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3814893
hg1914893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11219779, essv11219781, essv11219780, essv11219782
SamplesNA19904, HG02715, HG02678, NA19913
Known GenesEGFEM1P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598583
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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