A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760498



Internal ID10376806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:43293031..43323366hg38UCSC Ensembl
Innerchr18:40872996..40903331hg19UCSC Ensembl
Innerchr18:39126994..39157329hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3830336
hg1930336
hg1830336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025020, essv7025023, essv7025032, essv7025031, essv7025017, essv7025016, essv7025029, essv7025034, essv7025028, essv7025027, essv7025025, essv7025026, essv7025021, essv7025030, essv7025019, essv7025024, essv7025018
SamplesRW_0635, RW_0520, RW_0606, RW_0502, RW_0111, RW_0286, RW_0227, RW_0250, RW_0333, RW_0507, RW_0529, RW_0048, RW_0229, RW_0209, RW_0139, RW_0213, RW_0630
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)esv2760498
Frequency
Sample Size1109
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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