A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv880n27



Internal ID20133138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19678504..19697887hg38UCSC Ensembl
chr8:19536015..19555398hg19UCSC Ensembl
chr8:19580295..19599678hg18UCSC Ensembl
chr8:19580295..19599678hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3819384
hg1919384
hg1819384
hg1719384
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv465602, nsv465606, nsv465604, nsv465603, nsv465607
SamplesHGDP00475, HGDP00455, HGDP00454, HGDP01090, HGDP01086
Known GenesCSGALNACT1
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)dgv880n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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