A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12092660



Internal ID2094476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148224310..148363295hg38UCSC Ensembl
chr5:147603873..147742858hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38138986
hg19138986
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607107
Supporting Variants
SamplesHG00476
Known GenesLOC102546294, SPINK13, SPINK7, SPINK9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12092660
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