A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3582951



Internal ID7054333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:76303620..76303744hg38UCSC Ensembl
chr8:77215855..77215979hg19UCSC Ensembl
chr8:77378410..77378534hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38125
hg19125
hg18125
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010299
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3582951
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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