A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995861



Internal ID10365329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:42265498..42305603hg38UCSC Ensembl
Innerchr11:42287048..42327153hg19UCSC Ensembl
Innerchr11:42243624..42283729hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg3840106
hg1940106
hg1840106
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761669
Supporting Variants
SamplesSW_1134
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)essv6995861
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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