A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763949



Internal ID10377985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167934598..168211317hg38UCSC Ensembl
Innerchr6:168335278..168611997hg19UCSC Ensembl
Innerchr6:168078127..168354846hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38276720
hg19276720
hg18276720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7033269, essv7033262, essv7033270, essv7033266, essv7033271, essv7033257, essv7033255, essv7033259, essv7033264, essv7033254, essv7033268, essv7033263, essv7033261, essv7033265, essv7033258, essv7033253, essv7033260, essv7033252
SamplesSW_0884, SW_1188, SW_1114, SW_0313, SW_1233, SW_1414, SW_1435, SW_0535, SW_0576, SW_1318, SW_0323, SW_1380, SW_0113, SW_0674, SW_1175, SW_1208, SW_1450, SW_1281
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
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)esv2763949
Frequency
Sample Size1109
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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