A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7002708



Internal ID10370665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:29515670..29548115hg38UCSC Ensembl
Innerchr18:27095635..27128080hg19UCSC Ensembl
Innerchr18:25349633..25382078hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3832446
hg1932446
hg1832446
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761997
Supporting Variants
SamplesSW_1368
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)essv7002708
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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