A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv128e55

Internal ID18985359
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46017105..46286690hg38UCSC Ensembl
chr17:44094471..44364056hg19UCSC Ensembl
chr17:41450308..41719833hg18UCSC Ensembl
chr17:41450308..41719833hg17UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751754, esv2751744, esv35089, esv34642, esv2751716, esv2751740, esv2751739, esv2751698, esv2751714, esv2751708, esv2751719, esv2751700, esv2751699, esv34641, esv2751745, esv34887, esv2751729, esv35008, esv34587, esv2751712, esv2751713, esv34584, esv34316, esv34211, esv2751701, esv2751746, esv2751728, esv2751706, esv2751702, esv34589, esv34241, esv2751688, esv34946, esv2751704, esv2751730, esv2751753, esv2751752, esv2751751, esv2751707, esv2751715, esv2751724, esv2751690, esv34343, esv2751693, esv2751718, esv34695, esv2751736, esv2751710, esv34225, esv2751696, esv2751725, esv2751738, esv34326, esv2751720, esv2751689, esv2751731, esv2751687, esv34256, esv2751722, esv2751717, esv2751709, esv2751721, esv2751727, esv2751726, esv2751703, esv2751737, esv34374, esv2751723, esv34723, esv34740
SamplesNA10859, NA11881, BEC_304, BEC_688, SPC_29, BEC_371, SPC_38, BEC_695, NA12264, BEC_314, NA10847, BEC_299, NA12707, NA12005, BEC_355, BEC_22, BEC_535, BEC_669, SPC_183, BEC_348, BEC_561, BEC_563, BEC_578, SPC_108, BEC_312, NA11839, BEC_335, BEC_597, BEC_433, SPC_162, NA12761, BEC_175, BEC_730, NA12234, NA12144, SPC_47, NA12751, BEC_303, SPC_153, SPC_128, BEC_103, SPC_194, SPC_99, SPC_93, BEC_674, BEC_727, NA12891, NA12146, SPC_163, NA12812, BEC_546, BEC_671, BEC_289, BEC_353, BEC_685, NA07022, NA12878, BEC_717, NA11993, SPC_180, BEC_8, BEC_636, NA12236, NA12717, NA12874, BEC_647, BEC_402, SPC_1, BEC_395, BEC_501
Known GenesKANSL1, KANSL1-AS1, LOC644172, MAPT
MethodSNP array
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Pubmed ID17911159
Accession Number(s)dgv128e55
Sample Size771
Observed Gain266
Observed Loss0
Observed Complex0

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