A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7006979



Internal ID9990578
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 StatusS
Merged Variantsesv2760086
Supporting Variants
SamplesRW_0148
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)essv7006979
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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