A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796758



Internal ID18816686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23769675..23803255hg38UCSC Ensembl
Innerchr12:23922609..23956189hg19UCSC Ensembl
Innerchr12:23813876..23847456hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3833581
hg1933581
hg1833581
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892160
Supporting Variants
Samples
Known GenesSOX5
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796758
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