A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588066



Internal ID6628366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180303164..180304695hg38UCSC Ensembl
Innerchr1:180303213..180304646hg38UCSC Ensembl
Outerchr1:180303115..180304744hg38UCSC Ensembl
chr1:180272299..180273830hg19UCSC Ensembl
Innerchr1:180272348..180273781hg19UCSC Ensembl
Outerchr1:180272250..180273879hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381532
hg191532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10200346, essv10200381, essv10200271, essv10200289, essv10200337, essv10200379, essv10200362, essv10200350, essv10200386, essv10200357, essv10200302, essv10200378, essv10200295, essv10200248, essv10200361, essv10200368, essv10200262, essv10200410, essv10200272, essv10200411, essv10200277, essv10200283, essv10200369, essv10200313, essv10200247, essv10200317, essv10200316, essv10200388, essv10200355, essv10200365, essv10200245, essv10200250, essv10200282, essv10200393, essv10200390, essv10200343, essv10200281, essv10200311, essv10200394, essv10200406, essv10200293, essv10200360, essv10200363, essv10200366, essv10200269, essv10200342, essv10200270, essv10200384, essv10200402, essv10200246, essv10200382, essv10200303, essv10200349, essv10200320, essv10200351, essv10200301, essv10200391, essv10200296, essv10200403, essv10200297, essv10200370, essv10200323, essv10200290, essv10200300, essv10200259, essv10200353, essv10200338, essv10200239, essv10200387, essv10200278, essv10200354, essv10200356, essv10200249, essv10200274, essv10200398, essv10200243, essv10200335, essv10200284, essv10200286, essv10200258, essv10200240, essv10200268, essv10200305, essv10200401, essv10200299, essv10200309, essv10200339, essv10200267, essv10200257, essv10200275, essv10200294, essv10200307, essv10200328, essv10200376, essv10200380, essv10200347, essv10200321, essv10200314, essv10200336, essv10200400, essv10200280, essv10200334, essv10200359, essv10200288, essv10200329, essv10200324, essv10200396, essv10200408, essv10200377, essv10200383, essv10200308, essv10200264, essv10200318, essv10200310, essv10200389, essv10200251, essv10200375, essv10200392, essv10200395, essv10200322, essv10200405, essv10200260, essv10200304, essv10200263, essv10200252, essv10200241, essv10200397, essv10200330, essv10200340, essv10200373, essv10200327, essv10200345, essv10200306, essv10200266, essv10200255, essv10200279, essv10200291, essv10200312, essv10200256, essv10200333, essv10200315, essv10200367, essv10200409, essv10200285, essv10200371, essv10200261, essv10200326, essv10200385, essv10200273, essv10200265, essv10200276, essv10200348, essv10200372, essv10200292, essv10200319, essv10200242, essv10200331, essv10200399, essv10200287, essv10200325, essv10200254, essv10200298, essv10200332, essv10200253, essv10200352, essv10200344, essv10200358, essv10200364, essv10200404, essv10200407, essv10200244, essv10200341, essv10200374
SamplesHG00613, HG00380, HG00309, NA20887, HG00318, HG01790, HG03646, HG03861, NA11930, HG01104, HG03668, NA20890, HG00551, HG03631, HG00350, HG03744, HG03711, NA21114, NA20516, HG01173, HG01083, NA20796, NA20535, HG01277, NA20531, HG00310, HG02792, NA19003, HG01054, HG02006, HG03611, HG03663, NA19788, NA21133, NA19795, HG02885, HG00542, HG00173, NA21130, NA19782, HG00364, HG01507, HG00334, HG04001, HG04176, HG00335, HG04200, NA20895, HG01525, HG03949, HG04023, NA12287, HG04106, HG03863, HG00353, HG03752, HG02082, HG04219, HG00242, HG03910, HG03736, NA20819, HG01312, HG02654, NA21097, NA18960, NA21127, HG01709, HG00372, HG01088, HG03884, HG03770, HG03862, HG04194, NA07048, HG00149, HG03805, NA11933, HG01501, HG02348, NA11831, HG04099, NA20520, HG04042, HG00637, HG00284, NA18643, NA19700, HG01747, HG03971, NA12144, HG03685, NA21102, HG00133, HG02224, HG03780, HG03773, HG01097, HG00110, HG04141, NA20790, HG00383, HG01766, NA20910, NA20852, HG01121, HG01369, HG04239, HG03974, NA20878, HG00102, HG01676, HG02787, NA20774, HG02386, HG04212, NA20821, HG00329, HG00341, HG00246, NA12283, HG01512, HG01880, NA20858, NA21103, HG01094, NA20581, HG00595, NA18552, HG04155, NA20756, NA21126, HG03789, HG01801, HG01586, HG03990, HG03989, HG00262, HG03702, NA21087, HG01669, NA19818, NA21089, HG00379, NA19740, HG02687, NA18946, HG00123, HG02489, HG01619, HG00367, HG02286, HG03908, HG04189, HG00324, HG04015, HG00288, HG00641, NA06994, NA12760, HG01807, NA20772, HG00278, HG01602, HG01710, HG00136, HG02774, HG00126, NA18980, HG01354, HG03775, HG00327, HG00361
Known GenesACBD6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588066
Frequency
Sample Size2504
Observed Gain0
Observed Loss173
Observed Complex0
Frequencyn/a


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