A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29999



Internal ID12608193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144456732..144525122hg38UCSC Ensembl
Innerchr8:145682115..145750506hg19UCSC Ensembl
Innerchr8:145652923..145721314hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3868391
hg1968392
hg1868392
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv84238
SamplesHuRef
Known GenesCYHR1, FOXH1, GPT, KIFC2, LRRC14, LRRC24, MFSD3, PPP1R16A, RECQL4
MethodMerging
AnalysisNo Reference, merging experiment
PlatformNot Reported
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv29999
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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