A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv157n27



Internal ID22766886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70225821..70248052hg38UCSC Ensembl
chr11:70071927..70094158hg19UCSC Ensembl
chr11:69749575..69771806hg18UCSC Ensembl
chr11:69749575..69771806hg17UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3822232
hg1922232
hg1822232
hg1722232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv468630, nsv468626, nsv468629
SamplesHGDP00262, HGDP00520, HGDP00017
Known Genes
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)dgv157n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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