A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764028



Internal ID10031378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:79245424..79483314hg38UCSC Ensembl
Innerchr7:78874740..79112630hg19UCSC Ensembl
Innerchr7:78712676..78950566hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38237891
hg19237891
hg18237891
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990928, essv6990929
SamplesSW_0312, SW_1090
Known GenesMAGI2, MAGI2-AS3
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)esv2764028
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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