A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv613n100



Internal ID20152229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248129856..248497239hg38UCSC Ensembl
chr1:248293158..248660540hg19UCSC Ensembl
chr1:246359781..246727163hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38367384
hg19367383
hg18367383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1014378, nsv1002682, nsv1014913, nsv1000984
Samples
Known GenesOR14C36, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T12, OR2T2, OR2T3, OR2T33, OR2T4, OR2T5, OR2T6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv613n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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