A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761027



Internal ID10377334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:109970607..109974283hg38UCSC Ensembl
Innerchr6:110291810..110295486hg19UCSC Ensembl
Innerchr6:110398503..110402179hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg383677
hg193677
hg183677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014246, essv7014243, essv7014244
SamplesRW_0175, RW_0190, RW_0183
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)esv2761027
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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