A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6996091



Internal ID10361413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:61197450..61233022hg38UCSC Ensembl
Innerchr11:60964922..61000494hg19UCSC Ensembl
Innerchr11:60721498..60757070hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3835573
hg1935573
hg1835573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761679
Supporting Variants
SamplesSW_0885
Known GenesPGA3, PGA4
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)essv6996091
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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