A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8700421



Internal ID13634616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56808481..56808587hg38UCSC Ensembl
Innerchr5:56808518..56808541hg38UCSC Ensembl
Outerchr5:56808391..56808628hg38UCSC Ensembl
chr5:56104308..56104414hg19UCSC Ensembl
Innerchr5:56104345..56104368hg19UCSC Ensembl
Outerchr5:56104218..56104455hg19UCSC Ensembl
chr5:56140065..56140171hg18UCSC Ensembl
Innerchr5:56140125..56140102hg18UCSC Ensembl
Outerchr5:56139975..56140212hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38107
hg19107
hg18107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3368012
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8700421
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