A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7033265



Internal ID10367057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167934598..168196667hg38UCSC Ensembl
Innerchr6:168335278..168597347hg19UCSC Ensembl
Innerchr6:168078127..168340196hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38262070
hg19262070
hg18262070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763949
Supporting Variants
SamplesSW_1208
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
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)essv7033265
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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