A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761040



Internal ID10028402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:161393275..161439604hg38UCSC Ensembl
Innerchr6:161814307..161860636hg19UCSC Ensembl
Innerchr6:161734297..161780626hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3846330
hg1946330
hg1846330
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014338, essv7014340, essv7014331, essv7014335, essv7014333, essv7014342, essv7014339, essv7014337, essv7014341, essv7014332, essv7014336
SamplesRW_0169, RW_0203, RW_0007, RW_0538, RW_0634, RW_0322, RW_0624, RW_0626, RW_0122, RW_0643, RW_0038
Known GenesPARK2
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)esv2761040
Frequency
Sample Size1109
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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