A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005911



Internal ID10023794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236504486..236516303hg38UCSC Ensembl
Innerchr1:236667786..236679603hg19UCSC Ensembl
Innerchr1:234734409..234746226hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3811818
hg1911818
hg1811818
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763410
Supporting Variants
SamplesSW_1358
Known Genes
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)essv7005911
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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