A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv299n100



Internal ID22786386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119456171..119494314hg38UCSC Ensembl
chr1:119998794..120036937hg19UCSC Ensembl
chr1:119800317..119838460hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3838144
hg1938144
hg1838144
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1013126, nsv1002204
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv299n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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