A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308825



Internal ID14809088
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 StatusM
Merged Variants
Supporting Variantsessv7836738, essv7837347
SamplesNA19239, NA19240
Known GenesALDH1L1-AS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308825
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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