A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762587



Internal ID10375385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:37567954..37578147hg38UCSC Ensembl
Innerchr6:37535730..37545923hg19UCSC Ensembl
Innerchr6:37643708..37653901hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3810194
hg1910194
hg1810194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013636
SamplesRW_0131
Known Genes
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)esv2762587
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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