A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6991196



Internal ID10374109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128288400..128306848hg38UCSC Ensembl
Innerchr7:127928453..127946901hg19UCSC Ensembl
Innerchr7:127715689..127734137hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3818449
hg1918449
hg1818449
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764054
Supporting Variants
SamplesSW_1571
Known GenesMGC27345
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)essv6991196
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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