A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8916663



Internal ID14867075
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 StatusS
Merged Variantsesv3324713
Supporting Variants
SamplesNA19114
Known GenesNAALADL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8916663
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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