A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387934



Internal ID15234903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:149172833..149172833hg38UCSC Ensembl
Innerchr2:149172832..149172834hg38UCSC Ensembl
Outerchr2:149172783..149172883hg38UCSC Ensembl
chr2:150029347..150029347hg19UCSC Ensembl
Innerchr2:150029346..150029348hg19UCSC Ensembl
Outerchr2:150029297..150029397hg19UCSC Ensembl
chr2:149737593..149737593hg18UCSC Ensembl
Innerchr2:149737594..149737592hg18UCSC Ensembl
Outerchr2:149737543..149737643hg18UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg381010
hg191010
hg181010
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741039
SamplesNA19240
Known GenesLYPD6B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387934
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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