A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024847



Internal ID9989382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82267669..82411695hg38UCSC Ensembl
Innerchr17:80225545..80369571hg19UCSC Ensembl
Innerchr17:77818834..77962860hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38144027
hg19144027
hg18144027
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760445
Supporting Variants
SamplesRW_0118
Known GenesCD7, CSNK1D, OGFOD3, SECTM1, TEX19, UTS2R
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)essv7024847
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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