A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8915934



Internal ID13805731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:148193875..148193887hg38UCSC Ensembl
Innerchr3:148193871..148193889hg38UCSC Ensembl
Outerchr3:148193861..148193901hg38UCSC Ensembl
chr3:147911662..147911674hg19UCSC Ensembl
Innerchr3:147911658..147911676hg19UCSC Ensembl
Outerchr3:147911648..147911688hg19UCSC Ensembl
chr3:149394352..149394364hg18UCSC Ensembl
Innerchr3:149394366..149394348hg18UCSC Ensembl
Outerchr3:149394338..149394378hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3324095
Supporting Variants
SamplesNA18504
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8915934
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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