A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992649



Internal ID10356134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382326..12387748hg38UCSC Ensembl
Innerchr8:12239835..12245257hg19UCSC Ensembl
Innerchr8:12284206..12289628hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg385423
hg195423
hg185423
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764095
Supporting Variants
SamplesSW_0351
Known GenesFAM66A
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)essv6992649
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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