A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2759831

Internal ID9635290
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:61147888..61313185hg38UCSC Ensembl
Innerchr11:60915360..61080657hg19UCSC Ensembl
Innerchr11:60671936..60837233hg18UCSC Ensembl
Innerchr11:60671936..60837233hg17UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758273
SamplesNA18503, NA19142, NA19012, NA10831, NA18621, NA19207, NA18870, NA18964, NA12154, NA18863, NA19127, NA19152, NA19194, NA12249, NA18861, NA18605, NA12750, NA18594, NA18951, NA19192, NA18914, NA19222, NA18561, NA18952, NA18975, NA18966, NA18612, NA19209, NA19093, NA19120, NA18500, NA18550, NA18570, NA19003, NA12264, NA18859, NA12815, NA18545, NA18603, NA18948, NA18516, NA12707, NA06993, NA18529, NA18953, NA18969, NA18972, NA18947, NA18573, NA18608, NA18542, NA18855, NA19144, NA19210, NA07348, NA18507, NA18860, NA18994, NA18965, NA18505, NA18862, NA18949, NA18632, NA12865, NA19140, NA12763, NA18912, NA19211, NA18998, NA18624, NA18967, NA19239, NA18992, NA11839, NA11840, NA18635, NA12155, NA18576, NA18622, NA18960, NA10846, NA18563, NA07357, NA18623, NA12762, NA18990, NA18991, NA18636, NA12740, NA18592, NA12761, NA18959, NA18609, NA18547, NA18976, NA18637, NA18973, NA11995, NA18593, NA12144, NA18970, NA19000, NA12145, NA19153, NA18537, NA18620, NA18515, NA19129, NA18633, NA18572, NA19094, NA19103, NA06985, NA19206, NA18968, NA19102, NA18522, NA19238, NA18502, NA19119, NA18558, NA19154, NA10856, NA19139, NA18504, NA18978, NA18858, NA18942, NA18540, NA18997, NA19131, NA18579, NA18974, NA18945, NA18940, NA19145, NA18987, NA18582, NA18999, NA07055, NA18552, NA19138, NA10860, NA19101, NA19201, NA18995, NA06991, NA19193, NA18872, NA19128, NA18857, NA19116, NA10835, NA18971, NA19132, NA18577, NA19099, NA11830, NA12003, NA18944, NA10838, NA18852, NA19160, NA12248, NA18571, NA11829, NA12236, NA19130, NA19240, NA12717, NA12874, NA18532, NA19204, NA18981, NA18913, NA12760, NA19092, NA18555, NA19007, NA07000, NA18980, NA10861
Known GenesDDB1, PGA3, PGA4, PGA5, VPS37C, VWCE
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)esv2759831
Sample Size270
Observed Gain180
Observed Loss2
Observed Complex0

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