A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763891



Internal ID10031241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47993784..48154966hg38UCSC Ensembl
Innerchr10:49201820..49363009hg19UCSC Ensembl
Innerchr10:48871826..49033015hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38161183
hg19161190
hg18161190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12e203
Supporting Variantsessv6994860, essv6994858, essv6994857, essv6994854, essv6994859
SamplesSW_1000, SW_1150, SW_1263, SW_0621, SW_1267
Known GenesCTGLF12P, FAM25C, FAM25G
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2763891
Frequency
Sample Size1109
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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