A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760445



Internal ID10027808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82267669..82421456hg38UCSC Ensembl
Innerchr17:80225545..80379332hg19UCSC Ensembl
Innerchr17:77818834..77972621hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38153788
hg19153788
hg18153788
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024853, essv7024848, essv7024850, essv7024849, essv7024852, essv7024851, essv7024847
SamplesRW_0118, RW_0141, RW_0619, RW_0541, RW_0508, RW_0136, RW_0622
Known GenesCD7, CSNK1D, HEXDC, 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)esv2760445
Frequency
Sample Size1109
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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