A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000398



Internal ID10027074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:84189026..84550221hg38UCSC Ensembl
Innerchr15:84857778..85093452hg19UCSC Ensembl
Innerchr15:82648782..82894456hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38361196
hg19235675
hg18245675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761880
Supporting Variants
SamplesSW_1517
Known GenesDNM1P41, GOLGA6L4, GOLGA6L5P, LOC388152, LOC440300, LOC642423, UBE2Q2P1
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)essv7000398
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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