A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762527



Internal ID10029877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78625376..79252373hg38UCSC Ensembl
Innerchr5:77921199..78548196hg19UCSC Ensembl
Innerchr5:77956955..78583952hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38626998
hg19626998
hg18626998
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7012927
SamplesRW_0187
Known GenesARSB, BHMT, BHMT2, DMGDH, JMY, LHFPL2
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)esv2762527
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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