A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653325



Internal ID15108295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:102586346..102586346hg38UCSC Ensembl
Innerchr3:102586345..102586347hg38UCSC Ensembl
Outerchr3:102586296..102586396hg38UCSC Ensembl
chr3:102305190..102305190hg19UCSC Ensembl
Innerchr3:102305189..102305191hg19UCSC Ensembl
Outerchr3:102305140..102305240hg19UCSC Ensembl
chr3:103787880..103787880hg18UCSC Ensembl
Innerchr3:103787881..103787879hg18UCSC Ensembl
Outerchr3:103787830..103787930hg18UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg381888
hg191888
hg181888
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3440464
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653325
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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