A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662699



Internal ID9582118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155689968..155694673hg38UCSC Ensembl
chr1:155659759..155664464hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg384706
hg194706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6546241, essv6457282, essv6030304, essv6297204, essv6112307, essv5861536, essv6330870, essv5579029, essv6250817, essv6076014, essv6552294, essv6305966, essv6186198, essv6081609, essv5958962, essv5465392, essv5406090, essv6056613, essv6258125, essv5617939, essv5443420, essv6579444, essv6066245, essv6231578, essv5786532, essv6073584, essv5597633, essv6224790, essv5669626, essv5853950, essv5691682, essv6416976, essv5616891, essv5984129, essv6049340, essv6337095, essv5962723, essv5549537, essv6443976, essv6254052, essv5514624, essv6354757, essv6342403, essv5611645, essv5979220, essv5635560, essv5468111, essv6460785, essv5686169, essv6202477, essv5576593, essv6563277, essv6230716, essv6388374, essv5549818, essv6041357, essv6394957, essv6130993, essv5784734, essv5781008, essv6560075, essv5656283, essv6432040, essv6051944, essv5695524, essv5907890, essv6310597, essv6188170, essv5781367, essv5531012, essv6365934, essv6252515, essv5976706, essv6449826, essv5648249, essv6540254, essv6437937, essv6294913, essv5580592, essv6172420, essv6314481, essv6216347, essv5406019, essv5751046, essv5490097, essv5407163, essv5941547, essv5580941, essv5743441, essv6236079, essv6160108, essv5911420, essv5585444, essv6433601, essv5777077, essv5936611, essv6487675, essv5443684, essv5807180, essv5693677, essv5450571, essv6297135, essv6302356, essv6493168, essv6534960, essv5930553, essv5662799, essv5547644, essv5405601, essv6016467, essv5775395, essv6123983, essv5458847, essv5401657, essv5574372, essv6116851, essv5542514, essv6421775, essv6372070, essv5645710, essv6293852, essv6242133, essv5796276, essv5982124, essv5881374, essv5465541, essv5534986, essv5542668, essv5775263, essv6402988, essv5953891, essv6088472, essv5503772, essv5866843, essv5932713, essv5537681, essv6282877, essv5644320, essv5904650, essv6164411, essv5675955, essv6457985, essv5758113, essv6019708, essv6507613, essv5679575, essv6327384, essv5981280, essv5813372, essv6433374, essv6426932, essv6234736, essv5689858, essv6225015, essv6369743, essv6322193, essv6429278, essv5733472, essv5903486, essv5603484, essv5458269, essv5750532, essv6137483, essv5747558, essv5882078, essv5843397, essv5585440, essv6042385, essv6194353, essv5862300, essv5925144, essv6170395, essv5806629, essv5796319, essv6421599, essv5834640, essv5521391, essv6257710, essv6211059, essv6023799
SamplesNA19394, NA18502, NA19700, NA19703, NA19397, NA18924, NA19466, NA19204, NA18861, NA19399, HG01079, NA19704, HG01066, NA18917, NA19359, NA19092, NA18486, NA20294, NA19355, NA19819, NA19393, NA18504, HG00737, NA19190, NA19098, NA18870, NA20356, NA19920, NA19446, NA19374, NA19396, NA19373, NA19171, NA18519, NA19201, NA19382, NA19315, NA18489, NA19448, NA19119, NA18923, NA19198, NA20317, NA19916, NA19131, NA19197, NA19457, NA18498, NA20287, NA20336, NA19904, NA19384, NA20291, NA19130, NA19404, HG01080, NA20278, NA19383, NA18874, NA18868, NA19917, NA19137, NA20340, NA19372, NA19238, NA19235, NA19207, NA19172, NA19471, NA19317, HG01440, NA19159, NA19189, NA18520, NA19239, NA20342, NA19209, NA19456, NA18908, NA19985, NA18867, NA19921, NA19200, HG01124, NA19247, NA19437, NA19707, NA18934, NA19403, NA19462, NA19347, NA19152, NA18933, NA19327, NA19455, NA19236, NA18516, NA19982, NA20126, NA18910, NA18871, NA20344, NA18907, HG01390, NA19114, NA20299, NA19449, NA18499, NA18912, NA20282, NA19099, NA19338, NA19257, NA19452, NA19756, NA19318, NA19160, NA19395, NA19625, NA18858, HG01107, NA19436, NA20296, NA19440, NA19390, NA18909, NA19321, NA19108, NA19147, NA18517, NA20276, NA19712, NA19434, NA19435, HG00638, NA19444, NA19331, NA19240, NA19380, NA19144, NA19835, NA19334, NA19439, NA19428, NA19324, HG01108, NA20281, NA19360, HG01342, NA20341, NA19759, NA19376, NA19398, NA18501, NA20348, NA19248, NA19438, NA19472, NA19223, NA20334, NA19474, NA19093, NA20289, NA19102, NA18873, NA19116, NA19900, NA19430, NA18505, NA19129, NA18488, NA19316, NA19312, NA20322, NA18522, NA19429, NA19346, NA18487, NA19153, NA19431
Known GenesDAP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662699
Frequency
Sample Size1151
Observed Gain0
Observed Loss180
Observed Complex0
Frequencyn/a


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