A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760086



Internal ID10027449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:215197227..215207922hg38UCSC Ensembl
Innerchr1:215370570..215381265hg19UCSC Ensembl
Innerchr1:213437193..213447888hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3810696
hg1910696
hg1810696
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7006974, essv7006976, essv7006979, essv7006975, essv7006977
SamplesRW_0105, RW_0071, RW_0148, RW_0047, RW_0006
Known GenesKCNK2
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)esv2760086
Frequency
Sample Size1109
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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