A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864445



Internal ID13316926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41184483..41184483hg38UCSC Ensembl
Innerchr5:41184481..41184485hg38UCSC Ensembl
Outerchr5:41184481..41184485hg38UCSC Ensembl
chr5:41184585..41184585hg19UCSC Ensembl
Innerchr5:41184583..41184587hg19UCSC Ensembl
Outerchr5:41184583..41184587hg19UCSC Ensembl
chr5:41220342..41220342hg18UCSC Ensembl
Innerchr5:41220344..41220340hg18UCSC Ensembl
Outerchr5:41220340..41220344hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3439556
Supporting Variants
SamplesNA12005
Known GenesC6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864445
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