A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7752946



Internal ID13814323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:148193877..148193878hg38UCSC Ensembl
Innerchr3:148193851..148193904hg38UCSC Ensembl
Outerchr3:148193850..148193905hg38UCSC Ensembl
chr3:147911664..147911665hg19UCSC Ensembl
Innerchr3:147911638..147911691hg19UCSC Ensembl
Outerchr3:147911637..147911692hg19UCSC Ensembl
chr3:149394354..149394355hg18UCSC Ensembl
Innerchr3:149394381..149394328hg18UCSC Ensembl
Outerchr3:149394327..149394382hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305047
Supporting Variants
SamplesNA18505
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7752946
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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