A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762705



Internal ID10030055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:134667005..134694885hg38UCSC Ensembl
Innerchr7:134351757..134379637hg19UCSC Ensembl
Innerchr7:134002297..134030177hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3827881
hg1927881
hg1827881
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7015117
SamplesRW_0059
Known GenesBPGM
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)esv2762705
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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