A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024294



Internal ID10338897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27417133..27430463hg38UCSC Ensembl
Innerchr17:25744159..25757489hg19UCSC Ensembl
Innerchr17:22768286..22781616hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3813331
hg1913331
hg1813331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760459
Supporting Variants
SamplesRW_0189
Known GenesTBC1D3P5
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)essv7024294
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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