A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6999864



Internal ID10006754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30483791..30608675hg38UCSC Ensembl
Innerchr15:30775994..30900878hg19UCSC Ensembl
Innerchr15:28563286..28688170hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38124885
hg19124885
hg18124885
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761732
Supporting Variants
SamplesSW_0103
Known GenesGOLGA8H, ULK4P1, ULK4P2
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)essv6999864
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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