A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784603



Internal ID18823828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:99393043..99409897hg38UCSC Ensembl
Innerchr6:99840919..99857773hg19UCSC Ensembl
Innerchr6:99947640..99964494hg18UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg3816855
hg1916855
hg1816855
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890914
Supporting Variants
Samples
Known GenesCOQ3, PNISR
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784603
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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