A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv186n27



Internal ID11601401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11760426..11778325hg38UCSC Ensembl
chr12:11913360..11931259hg19UCSC Ensembl
chr12:11804627..11822526hg18UCSC Ensembl
chr12:11804627..11822526hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3817900
hg1917900
hg1817900
hg1717900
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469114, nsv469113
Samples1780862252_A, HGDP00890
Known GenesETV6
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)dgv186n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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