A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7031799



Internal ID10361635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:257353..328357hg38UCSC Ensembl
Innerchr6:257353..328357hg19UCSC Ensembl
Innerchr6:202353..273357hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3871005
hg1971005
hg1871005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763964
Supporting Variants
SamplesSW_1000
Known GenesDUSP22
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)essv7031799
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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