A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv200n27



Internal ID11601415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52297319..52395144hg38UCSC Ensembl
chr12:52691103..52788928hg19UCSC Ensembl
chr12:50977370..51075195hg18UCSC Ensembl
chr12:50977370..51075195hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3897826
hg1997826
hg1897826
hg1797826
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469389, nsv469385, nsv469388
Samples1798860306_A, NINDS_116, 1782681287_A
Known GenesKRT82, KRT83, KRT84, KRT85, KRT86
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)dgv200n27
Frequency
Sample Size1557
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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