A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7033332



Internal ID10356642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:3405117..3578729hg38UCSC Ensembl
Innerchr7:3444749..3618361hg19UCSC Ensembl
Innerchr7:3411275..3584887hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38173613
hg19173613
hg18173613
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764026
Supporting Variants
SamplesSW_0552
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)essv7033332
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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