A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761371



Internal ID10374169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140264550..140279855hg38UCSC Ensembl
Innerchr7:139964350..139979655hg19UCSC Ensembl
Innerchr7:139610819..139626124hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3815306
hg1915306
hg1815306
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6991373
SamplesSW_1126
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)esv2761371
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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