A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6997739



Internal ID10018960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19389134..19667885hg38UCSC Ensembl
Innerchr13:19963274..20242025hg19UCSC Ensembl
Innerchr13:18861274..19140025hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38278752
hg19278752
hg18278752
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761244
Supporting Variants
SamplesSW_1147
Known GenesMPHOSPH8, TPTE2
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)essv6997739
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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