A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764019



Internal ID10031369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88728583..89620247hg38UCSC Ensembl
Innerchr7:88357897..89249561hg19UCSC Ensembl
Innerchr7:88195833..89087497hg18UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38891665
hg19891665
hg18891665
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990950, essv6990951
SamplesSW_1543, SW_1295
Known GenesC7orf62, ZNF804B
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)esv2764019
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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