A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6999858



Internal ID10018082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30230885..30376381hg38UCSC Ensembl
Innerchr15:30523088..30668584hg19UCSC Ensembl
Innerchr15:28310380..28455876hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38145497
hg19145497
hg18145497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761732
Supporting Variants
SamplesSW_1114
Known GenesCHRFAM7A
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)essv6999858
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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