A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv608n100



Internal ID20152224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247907795..248631151hg38UCSC Ensembl
chr1:248071097..248794452hg19UCSC Ensembl
chr1:246137720..246861075hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38723357
hg19723356
hg18723356
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1013574, nsv998465, nsv1004592
Samples
Known GenesOR14C36, OR2AK2, OR2G6, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T29, OR2T3, OR2T33, OR2T34, OR2T4, OR2T5, OR2T6, OR2T8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv608n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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