A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001504



Internal ID10354435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:1262192..1322646hg38UCSC Ensembl
Innerchr17:1165486..1225940hg19UCSC Ensembl
Innerchr17:1112236..1172690hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3860455
hg1960455
hg1860455
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761939
Supporting Variants
SamplesSW_0172
Known GenesBHLHA9, TUSC5
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)essv7001504
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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