A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv128e55



Internal ID6310640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44094471..44364056hg19UCSC Ensembl
chr17:41450308..41719833hg18UCSC Ensembl
chr17:41450308..41719833hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsesv2751754, esv2751744, esv35089, esv34642, esv2751716, esv2751739, esv2751740, 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 GenesKIAA1267, LOC644246, MAPT
Method
Analysis
Platform
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv128e55
Frequency
Sample Size771
Observed Gain70
Observed Loss0
Observed Complex0
Frequencyn/a


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