A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9615312



Internal ID13193078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56391980..56391999hg38UCSC Ensembl
Innerchr4:56391976..56392003hg38UCSC Ensembl
Outerchr4:56391957..56392022hg38UCSC Ensembl
chr4:57258146..57258165hg19UCSC Ensembl
Innerchr4:57258142..57258169hg19UCSC Ensembl
Outerchr4:57258123..57258188hg19UCSC Ensembl
chr4:56952903..56952922hg18UCSC Ensembl
Innerchr4:56952926..56952899hg18UCSC Ensembl
Outerchr4:56952880..56952945hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3386071
Supporting Variants
SamplesNA11918
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9615312
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