A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv92e55



Internal ID20126571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:19961833..22300085hg38UCSC Ensembl
chr15:20167086..22588036hg19UCSC Ensembl
chr15:18427100..20089400hg18UCSC Ensembl
chr15:18427100..20089400hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382338253
hg192420951
hg181662301
hg171662301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751477, esv2751384, esv2751399, esv34911, esv34845, esv2751461, esv2751378, esv2751312, esv34277, esv2751346, esv2751317, esv34283, esv35066, esv2751315, esv2751306, esv34865, esv2751335, esv35040, esv34640, esv34377, esv2751304, esv2751416, esv2751314, esv2751340, esv2751334, esv2751396, esv2751349, esv34533, esv2751347, esv2751336, esv2751439, esv2751338, esv2751377, esv2751323, esv34874, esv34658, esv34567, esv34830, esv2751389, esv2751415, esv34752, esv2751321, esv35172, esv2751342, esv2751390, esv34278, esv34696, esv34405, esv2751348, esv2751391, esv34591, esv34197, esv34920, esv2751327, esv2751302, esv2751438, esv35081, esv2751392, esv2751394, esv34884, esv2751307, esv34789, esv34843, esv2751442, esv2751341, esv2751471, esv2751330, esv34205, esv2751406, esv2751339, esv2751325, esv34336, esv34975, esv2751319, esv2751300, esv2751403, esv34600, esv2751328, esv34622, esv34665, esv34827, esv2751397, esv34294, esv2751305, esv34423, esv2751428, esv2751408, esv34930, esv2751395, esv2751329, esv34679, esv34424, esv2751309, esv2751402, esv34245, esv2751405, esv34977, esv2751401, esv34448, esv2751465, esv34382, esv34474, esv34694, esv35160, esv2751393, esv2751337, esv34805, esv34796, esv2751418, esv2751398, esv2751430, esv2751417, esv2751407, esv35095, esv2751343, esv2751381, esv2751324, esv34632, esv2751333, esv34285, esv2751326, esv2751440, esv2751414, esv2751345, esv2751400, esv34956, esv2751380, esv2751404, esv2751320, esv2751313, esv2751299, esv2751303, esv2751310, esv2751460, esv35124, esv2751447, esv34673, esv35166, esv2751443, esv34526, esv2751322, esv34765, esv34227, esv2751318, esv2751350, esv2751379, esv2751429, esv2751344, esv35054, esv2751470, esv2751301, esv2751308, esv2751298, esv35076, esv34868, esv34415, esv2751441, esv2751435, esv34453, esv2751459, esv34815, esv34229, esv2751466, esv2751332, esv34820, esv2751316, esv35090, esv2751311, esv34735, esv34501, esv2751331, esv2751472, esv34367
SamplesNA18998, BEC_785, BEC_642, BEC_539, NA12717, BEC_675, BEC_299, NA19203, BEC_738, NA11995, BEC_764, SPC_192, NA19145, BEC_176, NA19092, NA18545, BEC_657, NA12004, BEC_342, BEC_644, NA10857, BEC_543, BEC_716, NA19098, NA18633, BEC_789, BEC_739, NA07357, BEC_759, BEC_637, NA19005, NA12812, BEC_408, NA19201, BEC_570, NA10846, NA10854, SPC_14, BEC_654, BEC_373, BEC_131, BEC_660, NA18547, BEC_586, NA11992, NA07048, NA18582, NA12762, SPC_87, BEC_619, NA18964, BEC_544, SPC_108, BEC_661, NA07019, BEC_607, NA19238, BEC_123, NA19128, BEC_519, NA12815, BEC_401, BEC_806, SPC_76, NA19239, BEC_651, BEC_691, NA18973, BEC_611, BEC_11, BEC_229, NA19007, SPC_13, NA18605, NA19210, BEC_638, NA07022, BEC_484, NA12753, BEC_405, NA10863, BEC_500, BEC_647, BEC_30, BEC_728, BEC_676, NA18516, NA18637, BEC_434, SPC_17, BEC_535, NA11839, BEC_514, NA12234, BEC_5, BEC_462, NA19208, BEC_618, NA19202, NA18573, BEC_528, BEC_360, BEC_104, SPC_178, BEC_126, NA18856, BEC_438, NA18532, NA15510, NA12145, BEC_652, BEC_73, BEC_566, BEC_516, NA07345, NA12144, BEC_538, BEC_576, NA18593, NA19012, BEC_427, BEC_48, NA18632, BEC_51, NA12716, BEC_593, NA12864, NA18863, NA18564, NA10859, BEC_350, BEC_569, NA18913, BEC_719, BEC_468, NA19240, SPC_19, NA19144, BEC_713, BEC_445, BEC_625, BEC_556, NA10861, SPC_52, NA12874, NA07055, SPC_121, NA18594, SPC_136, NA18501, BEC_470, BEC_722, BEC_389, NA18636, NA18500, BEC_117, BEC_236, NA12875, NA18854, BEC_621, BEC_633, BEC_512, NA18852, SPC_65, BEC_293, SPC_165, NA18968, SPC_25, BEC_353, NA07000, SPC_153, BEC_361, NA18620
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
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)dgv92e55
Frequency
Sample Size771
Observed Gain615
Observed Loss0
Observed Complex0
Frequencyn/a


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