A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761089



Internal ID10377396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:97756261..97773163hg38UCSC Ensembl
Innerchr7:97385573..97402475hg19UCSC Ensembl
Innerchr7:97223509..97240411hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3816903
hg1916903
hg1816903
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv151e203
Supporting Variantsessv7014851, essv7014850, essv7014859, essv7014860, essv7014854, essv7014853, essv7014857, essv7014858, essv7014852
SamplesRW_0012, RW_0570, RW_0024, RW_0505, RW_0155, RW_0140, RW_0281, RW_0260, RW_0183
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)esv2761089
Frequency
Sample Size1109
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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