A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv906n27



Internal ID22767635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143845100..144161320hg38UCSC Ensembl
chr8:144927272..145216223hg19UCSC Ensembl
chr8:144999260..145288211hg18UCSC Ensembl
chr8:144999260..145288211hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38316221
hg19288952
hg18288952
hg17288952
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466013, nsv466012, nsv466010
SamplesHGDP00491, HGDP00950, 1780862304_A
Known GenesCYC1, EPPK1, EXOSC4, FAM203A, GPAA1, GRINA, KIAA1875, MAF1, MIR661, MIR6846, MIR6847, MROH1, OPLAH, PARP10, PLEC, SHARPIN, SPATC1
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)dgv906n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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