A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990863



Internal ID10360092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:64306602..64524347hg38UCSC Ensembl
Innerchr7:63766980..63984725hg19UCSC Ensembl
Innerchr7:63404415..63622160hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38217746
hg19217746
hg18217746
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764000
Supporting Variants
SamplesSW_0816
Known GenesYWHAEP1, ZNF680, ZNF736
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)essv6990863
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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