A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1040121



Internal ID12203247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132563765..132563927hg38UCSC Ensembl
chr12:133140351..133140513hg19UCSC Ensembl
chr12:131650424..131650586hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38163
hg19163
hg18163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3617599
SamplesHuRef
Known GenesFBRSL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1040121
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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