A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv907n27



Internal ID20133165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144416180..144525122hg38UCSC Ensembl
chr8:145641564..145750506hg19UCSC Ensembl
chr8:145612372..145721314hg18UCSC Ensembl
chr8:145612372..145721314hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38108943
hg19108943
hg18108943
hg17108943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466022, nsv466019
SamplesHGDP00433, 1780862014_A
Known GenesCYHR1, FOXH1, GPT, KIFC2, LOC100287098, LRRC14, LRRC24, MFSD3, MIR6893, PPP1R16A, RECQL4, SLC39A4, TONSL, VPS28
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv907n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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