A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012581



Internal ID9992112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13872660..13883621hg38UCSC Ensembl
Innerchr5:13872769..13883730hg19UCSC Ensembl
Innerchr5:13925769..13936730hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3810962
hg1910962
hg1810962
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760949
Supporting Variants
SamplesRW_0187
Known GenesDNAH5
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)essv7012581
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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