A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762653



Internal ID10375451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:13485597..13500625hg38UCSC Ensembl
Innerchr7:13525222..13540250hg19UCSC Ensembl
Innerchr7:13491747..13506775hg18UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg3815029
hg1915029
hg1815029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014501
SamplesRW_0260
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)esv2762653
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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