A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001877



Internal ID10024085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36093513..36157718hg38UCSC Ensembl
Innerchr17:34420861..34485091hg19UCSC Ensembl
Innerchr17:31444974..31509204hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3864206
hg1964231
hg1864231
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762388
Supporting Variants
SamplesSW_1373
Known GenesCCL4
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)essv7001877
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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