A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760755



Internal ID10028117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27487981..27504228hg38UCSC Ensembl
Innerchr12:27640914..27657161hg19UCSC Ensembl
Innerchr12:27532181..27548428hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3816248
hg1916248
hg1816248
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv24e203
Supporting Variantsessv6997113, essv6997120, essv6997094, essv6997114, essv6997086, essv6997110, essv6997104, essv6997091, essv6997082, essv6997071, essv6997079, essv6997076, essv6997101, essv6997085, essv6997118, essv6997098, essv6997081, essv6997112, essv6997090, essv6997073, essv6997117, essv6997083, essv6997125, essv6997116, essv6997108, essv6997095, essv6997097, essv6997099, essv6997109, essv6997102, essv6997107, essv6997115, essv6997092, essv6997121, essv6997103, essv6997105, essv6997106, essv6997123, essv6997080, essv6997072, essv6997088, essv6997096, essv6997074, essv6997119, essv6997093, essv6997087, essv6997075, essv6997084, essv6997124
SamplesSW_1000, SW_1231, SW_0841, SW_0370, SW_1412, SW_0158, SW_1315, SW_0639, SW_1457, SW_1132, SW_0191, SW_1367, SW_1197, SW_0891, SW_1106, SW_0760, SW_1126, SW_0646, SW_1322, SW_1419, SW_1469, SW_0369, SW_0758, SW_1358, SW_0073, SW_1233, SW_1029, SW_1327, SW_1089, SW_0653, SW_1227, SW_0118, SW_1374, SW_0339, SW_1071, SW_0004, SW_0568, SW_0006, SW_0606, SW_0143, SW_1156, SW_1416, SW_0603, SW_0159, SW_0144, SW_1147, SW_1405, SW_1208, SW_1026
Known GenesSMCO2
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)esv2760755
Frequency
Sample Size1109
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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