A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9623847



Internal ID13186710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109715282..109715301hg38UCSC Ensembl
Innerchr5:109715278..109715305hg38UCSC Ensembl
Outerchr5:109715259..109715324hg38UCSC Ensembl
chr5:109050983..109051002hg19UCSC Ensembl
Innerchr5:109050979..109051006hg19UCSC Ensembl
Outerchr5:109050960..109051025hg19UCSC Ensembl
chr5:109078882..109078901hg18UCSC Ensembl
Innerchr5:109078905..109078878hg18UCSC Ensembl
Outerchr5:109078859..109078924hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3351754
Supporting Variants
SamplesNA11894
Known GenesMAN2A1, MIR548C, MIR548Z
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9623847
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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