A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7750725



Internal ID13303289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123080907..123080908hg38UCSC Ensembl
Innerchr3:123080825..123080990hg38UCSC Ensembl
Outerchr3:123080824..123080991hg38UCSC Ensembl
chr3:122799754..122799755hg19UCSC Ensembl
Innerchr3:122799672..122799837hg19UCSC Ensembl
Outerchr3:122799671..122799838hg19UCSC Ensembl
chr3:124282444..124282445hg18UCSC Ensembl
Innerchr3:124282527..124282362hg18UCSC Ensembl
Outerchr3:124282361..124282528hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304686
Supporting Variants
SamplesNA12004
Known GenesPDIA5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7750725
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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