A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7836738



Internal ID14691098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126185567..126185568hg38UCSC Ensembl
Innerchr3:126185539..126185596hg38UCSC Ensembl
Outerchr3:126185538..126185597hg38UCSC Ensembl
chr3:125904410..125904411hg19UCSC Ensembl
Innerchr3:125904382..125904439hg19UCSC Ensembl
Outerchr3:125904381..125904440hg19UCSC Ensembl
chr3:127387100..127387101hg18UCSC Ensembl
Innerchr3:127387129..127387072hg18UCSC Ensembl
Outerchr3:127387071..127387130hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38294
hg19294
hg18294
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308825
Supporting Variants
SamplesNA19239
Known GenesALDH1L1-AS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7836738
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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