A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748438



Internal ID18722684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101708723..101712372hg38UCSC Ensembl
Outerchr12:101708518..101713308hg38UCSC Ensembl
Innerchr12:102102501..102106150hg19UCSC Ensembl
Outerchr12:102102296..102107086hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg384791
hg194791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549691
Supporting Variants
Samples
Known GenesCHPT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748438
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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