A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3578123



Internal ID7049505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142877756..142915789hg38UCSC Ensembl
chr8:143959172..143997205hg19UCSC Ensembl
chr8:143956174..143994207hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3838034
hg1938034
hg1838034
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv991235
Supporting Variants
SamplesHuRef
Known GenesCYP11B1, CYP11B2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3578123
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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