A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7033227



Internal ID10356924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:144644751..144649139hg38UCSC Ensembl
Innerchr6:144965887..144970275hg19UCSC Ensembl
Innerchr6:145007580..145011968hg18UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg384389
hg194389
hg184389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763600
Supporting Variants
SamplesSW_0579
Known GenesUTRN
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)essv7033227
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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