A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013530



Internal ID9984789
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 StatusS
Merged Variantsesv2761063
Supporting Variants
SamplesRW_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)essv7013530
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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