A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308924



Internal ID14809187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42666179..42666180hg38UCSC Ensembl
Innerchr5:42666162..42666197hg38UCSC Ensembl
Outerchr5:42666161..42666198hg38UCSC Ensembl
chr5:42666281..42666282hg19UCSC Ensembl
Innerchr5:42666264..42666299hg19UCSC Ensembl
Outerchr5:42666263..42666300hg19UCSC Ensembl
chr5:42702038..42702039hg18UCSC Ensembl
Innerchr5:42702056..42702021hg18UCSC Ensembl
Outerchr5:42702020..42702057hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38302
hg19302
hg18302
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842040, essv7842869
SamplesNA19239, NA19240
Known GenesGHR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308924
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer