A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995845



Internal ID10367544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:36408307..36412992hg38UCSC Ensembl
Innerchr11:36429857..36434542hg19UCSC Ensembl
Innerchr11:36386433..36391118hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg384686
hg194686
hg184686
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761662
Supporting Variants
SamplesSW_1228
Known GenesPRR5L
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)essv6995845
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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