A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760950



Internal ID10377257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50136997..50328524hg38UCSC Ensembl
Innerchr5:49432831..49624358hg19UCSC Ensembl
Innerchr5:49468588..49660115hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38191528
hg19191528
hg18191528
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7012786, essv7012785, essv7012784, essv7012782, essv7012781, essv7012780, essv7012783, essv7012779, essv7012778
SamplesRW_0566, RW_0286, RW_0260, RW_0578, RW_0215, RW_0170, RW_0031, RW_0554, RW_0535
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)esv2760950
Frequency
Sample Size1109
Observed Gain7
Observed Loss2
Observed Complex0
Frequencyn/a


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