A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762647



Internal ID10029997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:6794246..6845907hg38UCSC Ensembl
Innerchr7:6833877..6885538hg19UCSC Ensembl
Innerchr7:6800402..6852063hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3851662
hg1951662
hg1851662
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014452
SamplesRW_0181
Known GenesCCZ1B, RSPH10B, RSPH10B2
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)esv2762647
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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