A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7757264



Internal ID14230181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:175059134..175059135hg38UCSC Ensembl
Innerchr3:175059072..175059197hg38UCSC Ensembl
Outerchr3:175059071..175059198hg38UCSC Ensembl
chr3:174776924..174776925hg19UCSC Ensembl
Innerchr3:174776862..174776987hg19UCSC Ensembl
Outerchr3:174776861..174776988hg19UCSC Ensembl
chr3:176259618..176259619hg18UCSC Ensembl
Innerchr3:176259681..176259556hg18UCSC Ensembl
Outerchr3:176259555..176259682hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38270
hg19270
hg18270
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304618
Supporting Variants
SamplesNA18579
Known GenesNAALADL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7757264
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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