A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760766



Internal ID10028128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8204911..8432076hg38UCSC Ensembl
Innerchr12:8357507..8584672hg19UCSC Ensembl
Innerchr12:8248774..8475939hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38227166
hg19227166
hg18227166
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6996613, essv6996615, essv6996608, essv6996601, essv6996609, essv6996612, essv6996603, essv6996599, essv6996602, essv6996605, essv6996606, essv6996610, essv6996614, essv6996604, essv6996607
SamplesSW_1484, SW_0552, SW_0352, SW_1258, SW_1508, SW_1295, SW_1302, SW_0203, SW_1404, SW_0579, SW_1182, SW_1168, SW_1308, SW_1045, SW_1111
Known GenesFAM86FP, FAM90A1, LINC00937
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)esv2760766
Frequency
Sample Size1109
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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