A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761314



Internal ID10028676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:29151010..29498723hg38UCSC Ensembl
Innerchr7:29190626..29538339hg19UCSC Ensembl
Innerchr7:29157151..29504864hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38347714
hg19347714
hg18347714
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990783
SamplesSW_1231
Known GenesCHN2
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)esv2761314
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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