A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763602



Internal ID10030952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:150260057..150399530hg38UCSC Ensembl
Innerchr6:150581193..150720666hg19UCSC Ensembl
Innerchr6:150622886..150762359hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38139474
hg19139474
hg18139474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7033231
SamplesSW_1422
Known GenesIYD
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)esv2763602
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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