A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2758766

Internal ID9634225
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50033753..50149727hg38UCSC Ensembl
Innerchr19:50537010..50652984hg19UCSC Ensembl
Innerchr19:55228822..55344796hg18UCSC Ensembl
Innerchr19:55228822..55344796hg17UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758503
SamplesNA10859, NA19012, NA10831, NA18621, NA18870, NA18964, NA12154, NA18863, NA19127, NA19152, NA19194, NA18605, NA18594, NA12802, NA19222, NA18561, NA12801, NA18975, NA18966, NA19093, NA10839, NA12264, NA19223, NA18545, NA18603, NA18948, NA18516, NA12707, NA12813, NA06993, NA18529, NA18972, NA18573, NA18608, NA18542, NA19144, NA19210, NA07348, NA10855, NA07029, NA12044, NA19208, NA18862, NA19143, NA10863, NA18632, NA19140, NA19161, NA12763, NA19211, NA18624, NA19239, NA18992, NA11840, NA12753, NA07034, NA12004, NA18854, NA18635, NA12155, NA18622, NA18960, NA10846, NA12864, NA18563, NA07345, NA07357, NA12762, NA18990, NA18991, NA18592, NA07048, NA18956, NA18609, NA18547, NA18976, NA18637, NA18593, NA12234, NA12144, NA12751, NA12006, NA19000, NA12145, NA18537, NA18620, NA19129, NA18633, NA18572, NA19206, NA19102, NA18522, NA18502, NA19098, NA19139, NA18564, NA18961, NA18997, NA19221, NA19131, NA19159, NA18579, NA18945, NA19145, NA12891, NA18582, NA18999, NA12146, NA18552, NA19138, NA19101, NA19201, NA18995, NA06991, NA19193, NA19128, NA12812, NA19116, NA10830, NA19099, NA12003, NA18944, NA10838, NA12248, NA18611, NA12236, NA12717, NA12874, NA18532, NA18853, NA18981, NA18913, NA12760, NA19092, NA19202, NA07000
Known GenesFLJ26850, SNAR-A10, SNAR-A11, SNAR-A14, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-D, ZNF473
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
Pubmed ID17122850
Accession Number(s)esv2758766
Sample Size270
Observed Gain0
Observed Loss136
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer