A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3n35



Internal ID20133275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122137043..122137043hg38UCSC Ensembl
chr12:122621590..122621590hg19UCSC Ensembl
chr12:121187543..121187543hg18UCSC Ensembl
chr12:121146470..121146470hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv475217, nsv475215
SamplesNA19240
Known GenesMLXIP
MethodSequencing
AnalysisSearch fosmid ESPs as described in Tuzun et al (2005)
PlatformAgilent Custom Human 244K CGH Array
Comments
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)dgv3n35
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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