A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763857



Internal ID10377893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:62781420..62813912hg38UCSC Ensembl
Innerchr4:63647138..63679630hg19UCSC Ensembl
Innerchr4:63329733..63362225hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3832493
hg1932493
hg1832493
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7029291, essv7029297, essv7029294, essv7029293, essv7029299, essv7029288, essv7029300, essv7029287, essv7029295, essv7029296, essv7029289, essv7029292, essv7029298
SamplesSW_0578, SW_0029, SW_0015, SW_1361, SW_1057, SW_1569, SW_0019, SW_1034, SW_0089, SW_0044, SW_1103, SW_1093, SW_0090
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)esv2763857
Frequency
Sample Size1109
Observed Gain1
Observed Loss12
Observed Complex0
Frequencyn/a


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