A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012567



Internal ID10338162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:12815668..12838421hg38UCSC Ensembl
Innerchr5:12815780..12838533hg19UCSC Ensembl
Innerchr5:12868780..12891533hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3822754
hg1922754
hg1822754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760947
Supporting Variants
SamplesRW_0175
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)essv7012567
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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