A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13505061



Internal ID3506877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68675237..68722866hg38UCSC Ensembl
chr9:71290153..71337782hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3847630
hg1947630
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620546
Supporting Variants
SamplesNA18943
Known GenesPIP5K1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13505061
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