A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763942



Internal ID10031292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:10466868..10535430hg38UCSC Ensembl
Innerchr6:10467101..10535663hg19UCSC Ensembl
Innerchr6:10575087..10643649hg18UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg3868563
hg1968563
hg1868563
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031894, essv7031896, essv7031895, essv7031897
SamplesSW_1379, SW_1204, SW_0703, SW_1073
Known GenesGCNT2
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)esv2763942
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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