A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763526



Internal ID10030876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:2229830..2311682hg38UCSC Ensembl
Innerchr6:2230064..2311916hg19UCSC Ensembl
Innerchr6:2175063..2256915hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3881853
hg1981853
hg1881853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031871
SamplesSW_0271
Known GenesGMDS, GMDS-AS1
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)esv2763526
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer