A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763951



Internal ID10377987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:119874254..119976298hg38UCSC Ensembl
Innerchr6:120195400..120297444hg19UCSC Ensembl
Innerchr6:120237099..120339143hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38102045
hg19102045
hg18102045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7033192, essv7033191
SamplesSW_1263, SW_1414
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)esv2763951
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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