A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761766



Internal ID10029116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43542120..43722057hg38UCSC Ensembl
Innerchr15:43834318..44014255hg19UCSC Ensembl
Innerchr15:41621610..41801547hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38179938
hg19179938
hg18179938
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv45e203
Supporting Variantsessv7000073, essv7000072, essv7000058, essv7000054, essv7000059, essv7000062, essv7000070, essv7000056, essv7000068, essv7000067, essv7000061, essv7000057, essv7000074, essv7000065, essv7000060, essv7000069, essv7000052, essv7000063, essv7000064, essv7000071, essv7000053
SamplesSW_1266, SW_0832, SW_1375, SW_0639, SW_1437, SW_1092, SW_1447, SW_1455, SW_1413, SW_1204, SW_1044, SW_1103, SW_1140, SW_1467, SW_1060, SW_1332, SW_1346, SW_1004, SW_0678, SW_0822, SW_0160
Known GenesCATSPER2, CKMT1A, CKMT1B, PPIP5K1, RNU6-28P, STRC
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)esv2761766
Frequency
Sample Size1109
Observed Gain6
Observed Loss15
Observed Complex0
Frequencyn/a


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