A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274866



Internal ID347826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3318489..3318560hg38UCSC Ensembl
Outerchr12:3317660..3319262hg38UCSC Ensembl
Innerchr12:3427655..3427726hg19UCSC Ensembl
Outerchr12:3426826..3428428hg19UCSC Ensembl
Innerchr12:3297916..3297987hg18UCSC Ensembl
Outerchr12:3297087..3298689hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg381603
hg191603
hg181603
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585854
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv274866
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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