A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv955n27



Internal ID11602170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:136583078..136676165hg38UCSC Ensembl
chr9:139477530..139570617hg19UCSC Ensembl
chr9:138597351..138690438hg18UCSC Ensembl
chr9:136753367..136846454hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3893088
hg1993088
hg1893088
hg1793088
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466674, nsv466678, nsv466677
SamplesNINDS_168, HGDP00445, HGDP00512
Known GenesAGPAT2, EGFL7, MIR126
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)dgv955n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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