A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758688



Internal ID9634147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37706608..38600766hg38UCSC Ensembl
Innerchr17:36066615..36757019hg19UCSC Ensembl
Innerchr17:33140728..34010545hg18UCSC Ensembl
Innerchr17:33140728..34010545hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38894159
hg19690405
hg18869818
hg17869818
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758453
SamplesNA18503, NA19142, NA19012, NA19137, NA10831, NA18621, NA19207, NA18870, NA18964, NA18863, NA19127, NA12043, NA19152, NA19194, NA18861, NA18605, NA12750, NA18594, NA18951, NA19192, NA18914, NA18871, NA19222, NA18561, NA12801, NA18523, NA18975, NA18966, NA19173, NA12875, NA18612, NA19209, NA18501, NA19093, NA19120, NA18500, NA10839, NA18570, NA19003, NA12264, NA18859, NA19223, NA18545, NA18603, NA18948, NA18516, NA12707, NA06993, NA19203, NA18521, NA18529, NA18953, NA18969, NA18517, NA18573, NA18542, NA07019, NA12005, NA19144, NA19210, NA18507, NA10855, NA18860, NA18994, NA18524, NA18965, NA18505, NA19208, NA18506, NA18862, NA18949, NA19143, NA10863, NA18632, NA12865, NA19140, NA11882, NA19161, NA12763, NA18912, NA19211, NA18998, NA18624, NA18508, NA19239, NA11839, NA07034, NA18854, NA18566, NA18635, NA12155, NA18576, NA18622, NA10846, NA18563, NA07345, NA18623, NA12762, NA18991, NA18636, NA18856, NA07048, NA18956, NA18959, NA18547, NA11831, NA18976, NA18637, NA19100, NA12234, NA12144, NA18970, NA12751, NA12006, NA12239, NA19153, NA12716, NA18537, NA18620, NA18515, NA19129, NA19172, NA12892, NA18633, NA19103, NA19206, NA18968, NA19102, NA18522, NA19238, NA18502, NA19119, NA18558, NA19098, NA19154, NA12057, NA19139, NA18858, NA18942, NA18961, NA18540, NA18997, NA19221, NA18562, NA19131, NA19159, NA18945, NA19141, NA18940, NA19145, NA11832, NA18999, NA10857, NA12146, NA19101, NA19201, NA18995, NA06991, NA19193, NA18872, NA19128, NA12812, NA18857, NA12156, NA19116, NA19132, NA10830, NA18577, NA19099, NA07022, NA12878, NA12003, NA19205, NA18852, NA11993, NA19160, NA18571, NA18611, NA11829, NA19130, NA19171, NA19240, NA18532, NA18853, NA19204, NA18913, NA12760, NA19092, NA18555, NA19200, NA19202, NA18980, NA10854
Known GenesARHGAP23, GPR179, HNF1B, LOC440434, MRPL45, SOCS7, SRCIN1, TBC1D3, TBC1D3C, TBC1D3F, TBC1D3H, YWHAEP7
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).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2758688
Frequency
Sample Size270
Observed Gain139
Observed Loss55
Observed Complex0
Frequencyn/a


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