A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014530



Internal ID10342496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:21824276..21838344hg38UCSC Ensembl
Innerchr7:21863894..21877962hg19UCSC Ensembl
Innerchr7:21830419..21844487hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3814069
hg1914069
hg1814069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761158
Supporting Variants
SamplesRW_0272
Known GenesDNAH11
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)essv7014530
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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