A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763869



Internal ID10031219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161508746..161668740hg38UCSC Ensembl
Innerchr1:161478536..161638530hg19UCSC Ensembl
Innerchr1:159745160..159905154hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38159995
hg19159995
hg18159995
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5e203
Supporting Variantsessv7001688, essv7001666, essv7001599, essv7001644, essv7001621, essv7001588, essv7001633, essv7001577, essv7001610, essv7001566, essv7001677, essv7001655
SamplesSW_1539, SW_0889, SW_1464, SW_0005, SW_1153, SW_0091, SW_0007, SW_1475, SW_1180, SW_0170, SW_1128, SW_0239
Known GenesFCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7
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)esv2763869
Frequency
Sample Size1109
Observed Gain9
Observed Loss3
Observed Complex0
Frequencyn/a


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