A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001500



Internal ID7066626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196742223..196860102hg38UCSC Ensembl
Outerchr1:196711353..196829232hg19UCSC Ensembl
Outerchr1:194977976..195095855hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38117880
hg19117880
hg18117880
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565522
SamplesHuRef
Known GenesCFH, CFHR1, CFHR3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001500
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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