A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12n29



Internal ID22767700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143521853..143780253hg38UCSC Ensembl
chr7:143218946..143477346hg19UCSC Ensembl
chr7:142929068..143108279hg18UCSC Ensembl
chr7:142689876..142869087hg16UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38258401
hg19258401
hg18179212
hg16179212
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469589, nsv469753
Samples
Known GenesCTAGE15, CTAGE6, EPHA1-AS1, FAM115C
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)dgv12n29
Frequency
Sample Size265
Observed Gain41
Observed Loss3
Observed Complex0
Frequencyn/a


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