A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000045



Internal ID10372897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34809477..34979438hg38UCSC Ensembl
Innerchr15:35101678..35271639hg19UCSC Ensembl
Innerchr15:32888970..33058931hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38169962
hg19169962
hg18169962
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761865
Supporting Variants
SamplesSW_1465
Known GenesAQR, ZNF770
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)essv7000045
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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