A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6997995



Internal ID10358906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:57184136..57204246hg38UCSC Ensembl
Innerchr13:57758270..57778380hg19UCSC Ensembl
Innerchr13:56656271..56676381hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3820111
hg1920111
hg1820111
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761121
Supporting Variants
SamplesSW_0691
Known Genes
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)essv6997995
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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