A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763021



Internal ID10030371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54716380..54868201hg38UCSC Ensembl
Innerchr19:55227879..55379656hg19UCSC Ensembl
Innerchr19:59919691..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 Variantsdgv76e203
Supporting Variantsessv7003738, essv7003750, essv7003753, essv7003747, essv7003740, essv7003743, essv7003734, essv7003746, essv7003727, essv7003754, essv7003761, essv7003771, essv7003760, essv7003752, essv7003739, essv7003728, essv7003730, essv7003758, essv7003757, essv7003736, essv7003748, essv7003763, essv7003770, essv7003749, essv7003729, essv7003765, essv7003764, essv7003768, essv7003751, essv7003769, essv7003742, essv7003732, essv7003741, essv7003759, essv7003762, essv7003731, essv7003766, essv7003755, essv7003737, essv7003735
SamplesSW_0145, SW_1170, SW_1443, SW_1115, SW_1064, SW_0240, SW_0146, SW_0639, SW_1425, SW_1100, SW_0570, SW_1294, SW_1065, SW_0029, SW_1129, SW_1197, SW_0173, SW_1109, SW_1057, SW_1391, SW_0785, SW_0295, SW_0048, SW_1235, SW_1107, SW_1043, SW_1131, SW_0058, SW_1140, SW_1501, SW_1062, SW_1112, SW_0626, SW_1074, SW_0018, SW_1373, SW_0717, SW_0144, SW_0197, SW_0100
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)esv2763021
Frequency
Sample Size1109
Observed Gain17
Observed Loss23
Observed Complex0
Frequencyn/a


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