A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3324713



Internal ID15171693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:175059134..175059192hg38UCSC Ensembl
Innerchr3:175059153..175059171hg38UCSC Ensembl
Outerchr3:175059097..175059229hg38UCSC Ensembl
chr3:174776924..174776982hg19UCSC Ensembl
Innerchr3:174776943..174776961hg19UCSC Ensembl
Outerchr3:174776887..174777019hg19UCSC Ensembl
chr3:176259618..176259676hg18UCSC Ensembl
Innerchr3:176259655..176259637hg18UCSC Ensembl
Outerchr3:176259581..176259713hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38270
hg19270
hg18270
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8916663, essv8916661, essv8916662
SamplesNA19210, NA18579, NA19114
Known GenesNAALADL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3324713
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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