A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4269239



Internal ID11205091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19479827..19479896hg38UCSC Ensembl
chr8:19337338..19337407hg19UCSC Ensembl
chr8:19381618..19381687hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1429388
Supporting Variants
SamplesHuRef
Known GenesCSGALNACT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4269239
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