A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7010699



Internal ID10361969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:22357994..22427030hg38UCSC Ensembl
Innerchr2:22580866..22649902hg19UCSC Ensembl
Innerchr2:22434371..22503407hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3869037
hg1969037
hg1869037
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762423
Supporting Variants
SamplesSW_1020
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)essv7010699
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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