A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761732



Internal ID10029082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30094208..30796274hg38UCSC Ensembl
Innerchr15:30386411..31088477hg19UCSC Ensembl
Innerchr15:28173703..28875769hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38702067
hg19702067
hg18702067
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv42e203
Supporting Variantsessv6999870, essv6999835, essv6999864, essv6999847, essv6999842, essv6999859, essv6999869, essv6999843, essv6999862, essv6999853, essv6999866, essv6999848, essv6999860, essv6999858, essv6999865, essv6999852, essv6999836, essv6999831, essv6999850, essv6999861, essv6999840, essv6999838, essv6999839, essv6999830, essv6999832, essv6999871, essv6999834, essv6999868, essv6999863, essv6999851, essv6999841, essv6999846, essv6999857, essv6999854, essv6999845, essv6999837, essv6999849
SamplesSW_1222, SW_0142, SW_1375, SW_1433, SW_0158, SW_1259, SW_1268, SW_1150, SW_1343, SW_0691, SW_1114, SW_0604, SW_1254, SW_1455, SW_1055, SW_0077, SW_1165, SW_0073, SW_1527, SW_1072, SW_0577, SW_1482, SW_1193, SW_1326, SW_0190, SW_1345, SW_0592, SW_1334, SW_0568, SW_0103, SW_1429, SW_0144, SW_1147, SW_0241, SW_1450, SW_1281
Known GenesARHGAP11B, CHRFAM7A, DKFZP434L187, GOLGA8H, GOLGA8J, GOLGA8T, LOC100288637, LOC101059918, ULK4P1, ULK4P2, ULK4P3
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)esv2761732
Frequency
Sample Size1109
Observed Gain10
Observed Loss26
Observed Complex0
Frequencyn/a


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