A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394803



Internal ID15241767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45501162..45501170hg38UCSC Ensembl
Innerchr3:45501154..45501176hg38UCSC Ensembl
Outerchr3:45501146..45501186hg38UCSC Ensembl
chr3:45542654..45542662hg19UCSC Ensembl
Innerchr3:45542646..45542668hg19UCSC Ensembl
Outerchr3:45542638..45542678hg19UCSC Ensembl
chr3:45517658..45517666hg18UCSC Ensembl
Innerchr3:45517672..45517650hg18UCSC Ensembl
Outerchr3:45517642..45517682hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675193, essv8675194, essv8675195
SamplesNA12891, NA12878, NA12892
Known GenesLARS2, LARS2-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394803
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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