A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761228



Internal ID10028590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:81254..499294hg38UCSC Ensembl
Innerchr8:31254..449294hg19UCSC Ensembl
Innerchr8:21254..439294hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38418041
hg19418041
hg18418041
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7015598, essv7015599, essv7015596, essv7015597
SamplesRW_0525, RW_0506, RW_0032, RW_0220
Known GenesFAM87A, FBXO25, OR4F21, RPL23AP53, TDRP, ZNF596
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)esv2761228
Frequency
Sample Size1109
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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