A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv241n145



Internal ID22813257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30083066..30090610hg38UCSC Ensembl
chr12:30235999..30243543hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg387545
hg197545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3113482, nsv3114919, nsv3111303, nsv3111892
Samplessample322, sample100, sample425, sample122, sample70, sample123, sample90, sample239, sample303, sample328, sample80, sample380, sample359, sample266, sample222, sample69, sample167, sample180, sample9, sample40, sample156, sample3, sample218, sample361, sample52, sample42, sample358, sample208, sample312, sample88, sample95, sample143, sample128, sample414, sample291, sample29, sample7, sample31, sample390, sample108, sample403, sample300, sample111, sample407, sample25, sample130, sample290, sample287, sample79, sample137, sample296, sample6, sample148, sample253, sample112, sample364, sample245, sample47, sample331, sample368, sample210, sample73, sample259, sample250, sample234, sample188, sample155, sample238, sample321, sample371, sample410, sample113, sample46, sample386, sample246, sample268, sample163, sample207, sample150
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv241n145
Frequency
Sample Size467
Observed Gain0
Observed Loss79
Observed Complex0
Frequencyn/a


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