A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617569



Internal ID7004454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70539385..70540260hg38UCSC Ensembl
Innerchr8:70539386..70540260hg38UCSC Ensembl
Outerchr8:70539385..70540261hg38UCSC Ensembl
chr8:71451620..71452495hg19UCSC Ensembl
Innerchr8:71451621..71452495hg19UCSC Ensembl
Outerchr8:71451620..71452496hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38876
hg19876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13219406, essv13219371, essv13219357, essv13219393, essv13219319, essv13219350, essv13219374, essv13219343, essv13219405, essv13219315, essv13219323, essv13219321, essv13219322, essv13219327, essv13219318, essv13219333, essv13219330, essv13219412, essv13219347, essv13219366, essv13219358, essv13219378, essv13219302, essv13219402, essv13219368, essv13219342, essv13219329, essv13219308, essv13219408, essv13219409, essv13219338, essv13219383, essv13219337, essv13219354, essv13219384, essv13219325, essv13219401, essv13219370, essv13219362, essv13219298, essv13219303, essv13219379, essv13219340, essv13219411, essv13219369, essv13219307, essv13219403, essv13219317, essv13219351, essv13219397, essv13219364, essv13219390, essv13219385, essv13219320, essv13219388, essv13219316, essv13219331, essv13219377, essv13219382, essv13219344, essv13219407, essv13219312, essv13219400, essv13219391, essv13219336, essv13219305, essv13219361, essv13219314, essv13219373, essv13219313, essv13219356, essv13219399, essv13219352, essv13219304, essv13219365, essv13219299, essv13219413, essv13219360, essv13219300, essv13219353, essv13219334, essv13219341, essv13219349, essv13219301, essv13219398, essv13219404, essv13219387, essv13219297, essv13219392, essv13219386, essv13219335, essv13219326, essv13219395, essv13219394, essv13219381, essv13219363, essv13219294, essv13219324, essv13219367, essv13219348, essv13219396, essv13219359, essv13219332, essv13219380, essv13219311, essv13219345, essv13219375, essv13219339, essv13219296, essv13219295, essv13219376, essv13219410, essv13219306, essv13219372, essv13219328, essv13219389, essv13219346, essv13219355, essv13219309, essv13219310
SamplesNA18502, HG02628, NA18924, HG02481, NA18508, NA19399, HG03175, HG02318, NA18917, HG03298, HG03455, HG02624, NA18504, NA19377, HG03577, HG03372, NA19314, HG02769, HG03133, HG03082, NA18519, HG02811, HG03499, NA19448, HG02485, HG01167, NA19198, NA19916, HG02054, HG01063, HG02922, HG02505, HG02143, HG03268, NA18868, NA19917, HG02461, NA19238, HG01369, HG02642, HG01308, HG01176, HG02588, NA19026, NA19189, NA18520, NA18864, HG03369, NA19027, HG01164, NA19247, HG03054, HG03132, NA18934, NA19152, HG01162, HG01879, NA18516, HG02953, HG02887, NA20126, HG02968, HG02878, HG02537, HG02757, HG01390, HG01161, NA19461, HG03388, NA18856, HG03024, HG03354, NA19160, HG02594, HG02568, HG01896, HG02722, NA19035, HG02772, HG03064, NA19321, NA20276, HG03539, HG02546, NA19454, HG02611, HG03259, HG03304, HG02839, HG02317, NA19360, HG03557, HG03419, HG02814, HG03108, NA19143, HG03313, HG02938, HG01254, HG03063, HG02679, HG02013, NA19096, NA18876, HG03538, HG03401, NA19900, NA19121, HG03445, HG02947, NA19146, HG03376, HG02284, HG01886, NA18522, NA19429, NA19214, HG03166, HG03271, HG03196
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617569
Frequency
Sample Size2504
Observed Gain0
Observed Loss120
Observed Complex0
Frequencyn/a


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