A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8915376



Internal ID13574525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126185564..126185598hg38UCSC Ensembl
Innerchr3:126185566..126185594hg38UCSC Ensembl
Outerchr3:126185532..126185630hg38UCSC Ensembl
chr3:125904407..125904441hg19UCSC Ensembl
Innerchr3:125904409..125904437hg19UCSC Ensembl
Outerchr3:125904375..125904473hg19UCSC Ensembl
chr3:127387097..127387131hg18UCSC Ensembl
Innerchr3:127387127..127387099hg18UCSC Ensembl
Outerchr3:127387065..127387163hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38260
hg19260
hg18260
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3405792
Supporting Variants
SamplesNA18523
Known GenesALDH1L1-AS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8915376
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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