A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv295n100



Internal ID22786382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117438133..117526803hg38UCSC Ensembl
chr1:117980755..118069425hg19UCSC Ensembl
chr1:117782278..117870948hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3888671
hg1988671
hg1888671
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000683, nsv1003905, nsv1001286, nsv1005179, nsv1000625, nsv1007469, nsv1003281
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)dgv295n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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