A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764242



Internal ID10031592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109676386..109707968hg38UCSC Ensembl
Innerchr1:110219008..110250590hg19UCSC Ensembl
Innerchr1:110020531..110052113hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3831583
hg1931583
hg1831583
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3e203
Supporting Variantsessv7005982, essv7006015, essv7006016, essv7005976, essv7005985, essv7006032, essv7005994, essv7005984, essv7006031, essv7006034, essv7005960, essv7006027, essv7005953, essv7005954, essv7005999, essv7006001, essv7006030, essv7005997, essv7005983, essv7005995, essv7006009, essv7005957, essv7006002, essv7005979, essv7006025, essv7005963, essv7006020, essv7005987, essv7005986, essv7006014, essv7005952, essv7005991, essv7005996, essv7006029, essv7005974, essv7005959, essv7006021, essv7006010, essv7005972, essv7005962, essv7006003, essv7006005, essv7006004, essv7005980, essv7006008, essv7005964, essv7006036, essv7005950, essv7006024, essv7006035, essv7006007, essv7005992, essv7005977, essv7006026, essv7006019, essv7006028, essv7005973, essv7005988, essv7005993, essv7006006, essv7005990, essv7005961, essv7005965, essv7006013, essv7006017, essv7005958, essv7005975, essv7006012, essv7005971, essv7005970, essv7005969, essv7005951, essv7006018, essv7006023, essv7005981, essv7005998, essv7005968, essv7005956
SamplesRW_0660, RW_0123, RW_0138, RW_0348, RW_0030, RW_0039, RW_0105, RW_0239, RW_0010, RW_0610, RW_0262, RW_0595, RW_0606, RW_0187, RW_0559, RW_0168, RW_0226, RW_0192, RW_0180, RW_0658, RW_0629, RW_0098, RW_0551, RW_0549, RW_0137, RW_0624, RW_0503, RW_0113, RW_0626, RW_0241, RW_0115, RW_0017, RW_0528, RW_0111, RW_0519, RW_0122, RW_0118, RW_0324, RW_0637, RW_0600, RW_0505, RW_0094, RW_0253, RW_0601, RW_0666, RW_0211, RW_0091, RW_0029, RW_0250, RW_0129, RW_0633, RW_0210, RW_0201, RW_0088, RW_0667, RW_0120, RW_0145, RW_0331, RW_0126, RW_0080, RW_0235, RW_0663, RW_0190, RW_0273, RW_0220, RW_0108, RW_0170, RW_0079, RW_0665, RW_0014, RW_0057, RW_0072, RW_0107, RW_0084, RW_0041, RW_0139, RW_0532, RW_0047
Known GenesGSTM1, GSTM2
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)esv2764242
Frequency
Sample Size1109
Observed Gain1
Observed Loss77
Observed Complex0
Frequencyn/a


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