A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv296n100



Internal ID22786383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117489535..117533905hg38UCSC Ensembl
chr1:118032157..118076527hg19UCSC Ensembl
chr1:117833680..117878050hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3844371
hg1944371
hg1844371
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1013249, nsv1008973, nsv1013425, nsv1011296, nsv1011470
Samples
Known GenesMAN1A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv296n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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