A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv904n27



Internal ID20133162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142572003..142612823hg38UCSC Ensembl
chr8:143653364..143694184hg19UCSC Ensembl
chr8:143650366..143691186hg18UCSC Ensembl
chr8:143650366..143691186hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3840821
hg1940821
hg1840821
hg1740821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv465990, nsv465989
SamplesHGDP00607, HGDP00619
Known GenesARC
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)dgv904n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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