A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7033331



Internal ID10373097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:3325370..3466482hg38UCSC Ensembl
Innerchr7:3365002..3506114hg19UCSC Ensembl
Innerchr7:3331528..3472640hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38141113
hg19141113
hg18141113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764026
Supporting Variants
SamplesSW_1471
Known GenesSDK1
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)essv7033331
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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