A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990950



Internal ID10022531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88728583..89068066hg38UCSC Ensembl
Innerchr7:88357897..88697380hg19UCSC Ensembl
Innerchr7:88195833..88535316hg18UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38339484
hg19339484
hg18339484
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764019
Supporting Variants
SamplesSW_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)essv6990950
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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