A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892161



Internal ID18839871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24459689..24522545hg38UCSC Ensembl
Outerchr12:24459689..24522545hg38UCSC Ensembl
Innerchr12:24612623..24675479hg19UCSC Ensembl
Outerchr12:24612623..24675479hg19UCSC Ensembl
Innerchr12:24503890..24566746hg18UCSC Ensembl
Outerchr12:24503890..24566746hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3862857
hg1962857
hg1862857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25782684
Samples
Known GenesSOX5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892161
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