A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv442n27



Internal ID22767171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:13051151..13148893hg38UCSC Ensembl
chr2:13191276..13289018hg19UCSC Ensembl
chr2:13108727..13206469hg18UCSC Ensembl
chr2:13141874..13239616hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3897743
hg1997743
hg1897743
hg1797743
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv455686, nsv469482, nsv469460, nsv455675, nsv455697, nsv455664, nsv469493, nsv455708, nsv469471
SamplesHGDP01379, HGDP01274, HGDP01266, HGDP01072, HGDP01272, NINDS_222, HGDP01280, 1788485588_A, HGDP00966
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)dgv442n27
Frequency
Sample Size1557
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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