A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv76e203



Internal ID20126301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54716380..54868201hg38UCSC Ensembl
chr19:55227879..55379656hg19UCSC Ensembl
chr19:59919691..60071468hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38151822
hg19151778
hg18151778
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2763021, esv2760527
SamplesRW_0010, RW_0329, SW_1107, RW_0123, RW_0357, SW_0639, RW_0629, RW_0129, SW_0626, SW_1131, RW_0131, RW_0222, SW_1064, SW_1170, RW_0020, RW_0013, SW_0197, SW_1501, SW_0144, RW_0562, SW_0570, RW_0269, SW_0173, SW_1109, SW_1129, RW_0270, SW_1115, RW_0201, RW_0258, SW_0295, SW_0048, RW_0162, RW_0571, SW_1057, SW_1100, RW_0021, RW_0237, SW_1391, RW_0071, RW_0155, SW_0145, RW_0519, SW_1197, RW_0573, SW_1373, RW_0224, RW_0319, SW_0100, SW_1425, RW_0248, RW_0250, RW_0041, RW_0616, RW_0068, SW_0785, RW_0632, RW_0091, SW_1065, RW_0170, RW_0637, SW_1294, RW_0253, RW_0023, SW_1235, RW_0043, SW_1443, RW_0004, RW_0648, SW_0018, RW_0230, RW_0358, RW_0552, SW_1112, RW_0174, RW_0599, RW_0511, RW_0148, RW_0601, RW_0660, SW_0029, RW_0080, RW_0241, RW_0279, SW_0058, SW_0146, RW_0113, RW_0507, RW_0266, RW_0525, RW_0635, RW_0006, SW_1062, RW_0075, SW_1074, SW_1140, RW_0114, RW_0594, RW_0238, SW_0240, RW_0257, SW_0717, RW_0032, SW_1043
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, LOC100287534
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)dgv76e203
Frequency
Sample Size1109
Observed Gain26
Observed Loss77
Observed Complex0
Frequencyn/a


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