A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv178n27



Internal ID20132436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7604110..7669096hg38UCSC Ensembl
chr12:7756706..7821692hg19UCSC Ensembl
chr12:7647973..7712959hg18UCSC Ensembl
chr12:7647973..7712959hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3864987
hg1964987
hg1864987
hg1764987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv468992, nsv468991
Samples1780854573_A, 1780862306_A
Known GenesAPOBEC1
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)dgv178n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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