A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5804605



Internal ID9888645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48090472..48090903hg38UCSC Ensembl
chr13:48664608..48665039hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2676750
Supporting Variants
SamplesNA20768
Known GenesMED4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5804605
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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