A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6999821



Internal ID10359110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:25630114..25636283hg38UCSC Ensembl
Innerchr15:25875261..25881430hg19UCSC Ensembl
Innerchr15:23426354..23432523hg18UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg386170
hg196170
hg186170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761853
Supporting Variants
SamplesSW_0716
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)essv6999821
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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