A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv619n27



Internal ID20132877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:142103779..142353090hg38UCSC Ensembl
chr3:141822621..142071932hg19UCSC Ensembl
chr3:143305311..143554622hg18UCSC Ensembl
chr3:143305319..143554630hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38249312
hg19249312
hg18249312
hg17249312
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460876, nsv460875
Samples1780854038_A, 1798860102_A
Known GenesGK5, TFDP2, XRN1
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)dgv619n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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