A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv294n100



Internal ID22786381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117396119..117533905hg38UCSC Ensembl
chr1:117938741..118076527hg19UCSC Ensembl
chr1:117740264..117878050hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38137787
hg19137787
hg18137787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1001557, nsv999199, nsv1000100
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)dgv294n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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