A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641446



Internal ID7028220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82995857..83015746hg38UCSC Ensembl
chr17:80953733..80973622hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3819890
hg1919890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15771171
SamplesHG01936
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641446
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