A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761036



Internal ID10377343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:134496598..134501603hg38UCSC Ensembl
Innerchr6:134817736..134822741hg19UCSC Ensembl
Innerchr6:134859429..134864434hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg385006
hg195006
hg185006
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014271, essv7014270
SamplesRW_0152, RW_0277
Known GenesLINC01010
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)esv2761036
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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