A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv626n100



Internal ID20152242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248546303..248664923hg38UCSC Ensembl
chr1:248709604..248828224hg19UCSC Ensembl
chr1:246776227..246894847hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38118621
hg19118621
hg18118621
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011123, nsv1013062, nsv1011323, nsv1000754, nsv1007220, nsv998003, nsv1009519, nsv1011938, nsv1007962, nsv1005317, nsv1001525, nsv1011142, nsv998500, nsv1008607, nsv1012259, nsv1006755, nsv1007219, nsv1007463, nsv1001680, nsv998404, nsv1008572, nsv1003816
Samples
Known GenesOR2T10, OR2T11, OR2T27, OR2T29, OR2T34, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv626n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss243
Observed Complex0
Frequencyn/a


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