A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013974



Internal ID10348111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:86639445..86765475hg38UCSC Ensembl
Innerchr6:87349163..87475193hg19UCSC Ensembl
Innerchr6:87405882..87531912hg18UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38126031
hg19126031
hg18126031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761012
Supporting Variants
SamplesRW_0583
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)essv7013974
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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