A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6324671



Internal ID9196852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50312422..50315754hg38UCSC Ensembl
chr8:51224982..51228314hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg383333
hg193333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676293
Supporting Variants
SamplesHG01495
Known GenesSNTG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6324671
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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