A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761953



Internal ID10374751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20183249..20322450hg38UCSC Ensembl
Innerchr17:20086562..20225763hg19UCSC Ensembl
Innerchr17:20027154..20166355hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38139202
hg19139202
hg18139202
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001850
SamplesSW_1111
Known GenesCCDC144CP, SPECC1
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)esv2761953
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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