A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10917250



Internal ID1409334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:8611079..8688004hg38UCSC Ensembl
chr3:8652765..8729690hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3876926
hg1976926
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595220
Supporting Variants
SamplesHG01277
Known GenesSSUH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10917250
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