A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4092n100



Internal ID22790179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148105061..148238001hg38UCSC Ensembl
chr2:148862630..148995570hg19UCSC Ensembl
chr2:148579100..148712040hg18UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38132941
hg19132941
hg18132941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007998, nsv997674
Samples
Known GenesMBD5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4092n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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