A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11863076



Internal ID1864892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33888638..33940515hg38UCSC Ensembl
chr5:33888743..33940620hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3851878
hg1951878
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604665
Supporting Variants
SamplesNA12717
Known GenesADAMTS12, RXFP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11863076
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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