A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv142n27



Internal ID22766871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:54590278..54747244hg38UCSC Ensembl
chr11:51372036..51529002hg19UCSC Ensembl
chr11:51228612..51385578hg18UCSC Ensembl
chr11:51228612..51385578hg17UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38156967
hg19156967
hg18156967
hg17156967
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467885, nsv467884
SamplesHGDP01208, 1780854337_A
Known GenesOR4A5, OR4C46
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)dgv142n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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