A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000401



Internal ID10008778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:85268392..85569198hg38UCSC Ensembl
Innerchr15:85811623..86112429hg19UCSC Ensembl
Innerchr15:83612627..83913433hg18UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg38300807
hg19300807
hg18300807
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761699
Supporting Variants
SamplesSW_0241
Known GenesAKAP13
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)essv7000401
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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