A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1079251



Internal ID12242376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128880631..128881270hg38UCSC Ensembl
chr9:131642910..131643549hg19UCSC Ensembl
chr9:130682731..130683370hg18UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38640
hg19640
hg18640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4047233
SamplesHuRef
Known GenesCCBL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1079251
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