A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014380



Internal ID9993882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167989043..168158833hg38UCSC Ensembl
Innerchr6:168389723..168559513hg19UCSC Ensembl
Innerchr6:168132572..168302362hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38169791
hg19169791
hg18169791
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761051
Supporting Variants
SamplesRW_0222
Known GenesFRMD1, KIF25, KIF25-AS1
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)essv7014380
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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