A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305167



Internal ID14805429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126185564..126185565hg38UCSC Ensembl
Innerchr3:126185518..126185611hg38UCSC Ensembl
Outerchr3:126185517..126185612hg38UCSC Ensembl
chr3:125904407..125904408hg19UCSC Ensembl
Innerchr3:125904361..125904454hg19UCSC Ensembl
Outerchr3:125904360..125904455hg19UCSC Ensembl
chr3:127387097..127387098hg18UCSC Ensembl
Innerchr3:127387144..127387051hg18UCSC Ensembl
Outerchr3:127387050..127387145hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38260
hg19260
hg18260
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7740849, essv7747089, essv7741462, essv7755094, essv7750322
SamplesNA19137, NA19239, NA18871, NA19114, NA18523
Known GenesALDH1L1-AS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305167
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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