A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3578466



Internal ID6703162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83519895..83519961hg38UCSC Ensembl
chr6:84229614..84229680hg19UCSC Ensembl
chr6:84286333..84286399hg18UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg3867
hg1967
hg1867
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996120
Supporting Variants
SamplesHuRef
Known GenesPRSS35
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3578466
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