A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763941



Internal ID10031291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29868859..29953350hg38UCSC Ensembl
Innerchr6:29836636..29921127hg19UCSC Ensembl
Innerchr6:29944615..30029106hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3884492
hg1984492
hg1884492
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031963, essv7031972, essv7031955, essv7031989, essv7031965, essv7031991, essv7031997, essv7031976, essv7031982, essv7031964, essv7031998, essv7031978, essv7032002, essv7032006, essv7031986, essv7031988, essv7031974, essv7031977, essv7031993, essv7031984, essv7031961, essv7031994, essv7031995, essv7031987, essv7031954, essv7031992, essv7031996, essv7031959, essv7032000, essv7031966, essv7031957, essv7031958, essv7031969, essv7031983, essv7031971, essv7031973, essv7032007, essv7032005, essv7031981, essv7032004, essv7031980, essv7031960, essv7031975, essv7032008, essv7031985, essv7031970, essv7031962, essv7031999, essv7032003
SamplesSW_0787, SW_0639, SW_0619, SW_0771, SW_1097, SW_0813, SW_1372, SW_0628, SW_0803, SW_0646, SW_1170, SW_1180, SW_1148, SW_0636, SW_1361, SW_1172, SW_1115, SW_0641, SW_1402, SW_1400, SW_1447, SW_1358, SW_0624, SW_1375, SW_0632, SW_1089, SW_0145, SW_0820, SW_1078, SW_0625, SW_0828, SW_1103, SW_1044, SW_0620, SW_1315, SW_0579, SW_1086, SW_0072, SW_1112, SW_0674, SW_0653, SW_0659, SW_0665, SW_1505, SW_1079, SW_1111, SW_0775, SW_0200, SW_1132
Known GenesHCG4B, HLA-A, HLA-H
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)esv2763941
Frequency
Sample Size1109
Observed Gain4
Observed Loss45
Observed Complex0
Frequencyn/a


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