A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383842



Internal ID15230812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149191553..149191563hg38UCSC Ensembl
Innerchr3:149191545..149191571hg38UCSC Ensembl
Outerchr3:149191532..149191581hg38UCSC Ensembl
chr3:148909340..148909350hg19UCSC Ensembl
Innerchr3:148909332..148909358hg19UCSC Ensembl
Outerchr3:148909319..148909368hg19UCSC Ensembl
chr3:150392030..150392040hg18UCSC Ensembl
Innerchr3:150392048..150392022hg18UCSC Ensembl
Outerchr3:150392009..150392058hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38273
hg19273
hg18273
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675025, essv8675024
SamplesNA19239, NA19240
Known GenesCP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383842
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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