A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv616n27



Internal ID22767345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:104635976..104663244hg38UCSC Ensembl
chr3:104354820..104382088hg19UCSC Ensembl
chr3:105837510..105864778hg18UCSC Ensembl
chr3:105837510..105864778hg17UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg3827269
hg1927269
hg1827269
hg1727269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460805, nsv460807
SamplesNINDS_104, NINDS_67
Known Genes
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)dgv616n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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