A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv602n100



Internal ID20152218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244936197..245539982hg38UCSC Ensembl
chr1:245099499..245703284hg19UCSC Ensembl
chr1:243166122..243769907hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38603786
hg19603786
hg18603786
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1001232, nsv1002289, nsv1012850, nsv1007273, nsv1009538
Samples
Known GenesEFCAB2, KIF26B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv602n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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