A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv128e55



Internal ID18985359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46017105..46286690hg38UCSC Ensembl
chr17:44094471..44364056hg19UCSC Ensembl
chr17:41450308..41719833hg18UCSC Ensembl
chr17:41450308..41719833hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38269586
hg19269586
hg18269526
hg17269526
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
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv128e55
Frequency
Sample Size771
Observed Gain266
Observed Loss0
Observed Complex0
Frequencyn/a


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