A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761063



Internal ID10028425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:13265102..13267979hg38UCSC Ensembl
Innerchr6:13265334..13268211hg19UCSC Ensembl
Innerchr6:13373313..13376190hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg382878
hg192878
hg182878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013531, essv7013532, essv7013530
SamplesRW_0346, RW_0068, RW_0001
Known GenesPHACTR1
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)esv2761063
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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