A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7015017



Internal ID10345035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:126179485..126361621hg38UCSC Ensembl
Innerchr7:125819539..126001675hg19UCSC Ensembl
Innerchr7:125606775..125788911hg18UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg38182137
hg19182137
hg18182137
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761105
Supporting Variants
SamplesRW_0500
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)essv7015017
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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