A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3250940



Internal ID10923920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122525804..122526133hg38UCSC Ensembl
Outerchr12:123010351..123010680hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7520507
SamplesHuRef
Known GenesRSRC2
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3250940
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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