A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv957n27



Internal ID20133215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:136619086..136725859hg38UCSC Ensembl
chr9:139513538..139620311hg19UCSC Ensembl
chr9:138633359..138740132hg18UCSC Ensembl
chr9:136789375..136896148hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38106774
hg19106774
hg18106774
hg17106774
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466679, nsv466680
Samples1780862100_A, 1780862388_A
Known GenesAGPAT2, EGFL7, FAM69B, MIR126, SNHG7
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)dgv957n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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