A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7031209



Internal ID10364316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:58030200..58042530hg38UCSC Ensembl
Innerchr5:57326027..57338357hg19UCSC Ensembl
Innerchr5:57361784..57374114hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3812331
hg1912331
hg1812331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763867
Supporting Variants
SamplesSW_1102
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)essv7031209
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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