A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990798



Internal ID10367192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:46143252..46157793hg38UCSC Ensembl
Innerchr7:46182850..46197391hg19UCSC Ensembl
Innerchr7:46149375..46163916hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3814542
hg1914542
hg1814542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761321
Supporting Variants
SamplesSW_1211
Known Genes
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)essv6990798
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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