A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013022



Internal ID10345555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116260580..116289560hg38UCSC Ensembl
Innerchr5:115596277..115625257hg19UCSC Ensembl
Innerchr5:115624176..115653156hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3828981
hg1928981
hg1828981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760969
Supporting Variants
SamplesRW_0513
Known GenesCOMMD10
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)essv7013022
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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