A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638998



Internal ID7025782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:72074449..72084226hg38UCSC Ensembl
chr16:72108348..72118125hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg389778
hg199778
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv532e214
Supporting Variantsessv15515349, essv15515372, essv15515347, essv15515399, essv15515332, essv15515345, essv15515333, essv15515337, essv15515338, essv15515469, essv15515417, essv15515369, essv15515355, essv15515466, essv15515444, essv15515416, essv15515292, essv15515479, essv15515419, essv15515368, essv15515360, essv15515330, essv15515325, essv15515310, essv15515300, essv15515437, essv15515415, essv15515378, essv15515388, essv15515371, essv15515438, essv15515298, essv15515322, essv15515424, essv15515457, essv15515440, essv15515412, essv15515474, essv15515335, essv15515451, essv15515364, essv15515395, essv15515389, essv15515478, essv15515468, essv15515464, essv15515344, essv15515423, essv15515301, essv15515427, essv15515402, essv15515305, essv15515313, essv15515475, essv15515302, essv15515375, essv15515336, essv15515311, essv15515454, essv15515380, essv15515356, essv15515471, essv15515383, essv15515432, essv15515397, essv15515370, essv15515365, essv15515307, essv15515462, essv15515441, essv15515306, essv15515470, essv15515435, essv15515403, essv15515381, essv15515339, essv15515359, essv15515304, essv15515458, essv15515334, essv15515406, essv15515411, essv15515477, essv15515308, essv15515443, essv15515329, essv15515323, essv15515439, essv15515400, essv15515361, essv15515294, essv15515413, essv15515480, essv15515366, essv15515303, essv15515428, essv15515404, essv15515348, essv15515331, essv15515367, essv15515465, essv15515362, essv15515447, essv15515373, essv15515387, essv15515394, essv15515426, essv15515414, essv15515357, essv15515420, essv15515358, essv15515473, essv15515398, essv15515320, essv15515385, essv15515376, essv15515314, essv15515390, essv15515429, essv15515296, essv15515379, essv15515384, essv15515453, essv15515374, essv15515309, essv15515408, essv15515448, essv15515341, essv15515343, essv15515352, essv15515328, essv15515391, essv15515316, essv15515442, essv15515346, essv15515476, essv15515319, essv15515317, essv15515312, essv15515396, essv15515354, essv15515436, essv15515392, essv15515421, essv15515393, essv15515433, essv15515318, essv15515340, essv15515410, essv15515377, essv15515327, essv15515326, essv15515459, essv15515445, essv15515422, essv15515363, essv15515460, essv15515293, essv15515353, essv15515430, essv15515405, essv15515446, essv15515425, essv15515472, essv15515456, essv15515299, essv15515407, essv15515401, essv15515418, essv15515409, essv15515295, essv15515452, essv15515450, essv15515431, essv15515350, essv15515297, essv15515315, essv15515463, essv15515342, essv15515386, essv15515449, essv15515455, essv15515434, essv15515382, essv15515321, essv15515461, essv15515351, essv15515467, essv15515324
SamplesHG02574, HG01485, NA20339, NA19141, HG03366, NA19222, HG02610, HG03484, HG02628, NA19703, HG02583, NA18508, HG03163, HG01885, HG02973, NA19332, HG03057, HG03241, HG02836, NA19020, NA18877, HG02012, HG03130, HG02323, HG03521, HG03298, HG03100, NA18504, NA20332, HG03126, HG03515, HG03172, NA18870, HG02895, HG02769, HG03478, NA19446, HG03572, HG03133, NA18519, HG03086, HG02621, HG03135, NA20320, HG02756, HG02860, NA19197, NA19771, HG02054, NA20287, HG03040, HG01134, HG02703, HG01067, NA19383, HG03556, HG02461, NA19238, HG03045, HG02885, HG02642, NA19172, HG02420, NA19159, HG03352, NA19036, HG02571, HG03380, HG02502, HG03073, NA19209, HG02715, HG03369, NA19027, HG03270, HG02943, HG02442, HG03120, HG03160, NA19707, NA19175, NA19462, NA19984, HG01162, NA19184, NA19455, NA19043, HG02554, HG02144, HG02953, HG01142, HG03575, HG02014, HG02968, HG01880, HG02497, HG01889, HG03124, HG03311, HG03563, NA19449, HG03202, HG02445, NA19042, NA18499, NA18856, NA19113, NA18912, HG02309, HG02881, HG02283, HG03024, NA19099, HG02635, HG02586, HG02896, HG02594, HG02568, HG01956, HG02722, NA19401, HG02667, NA19390, NA19108, NA18517, HG02759, NA19712, HG03539, NA19473, HG02983, HG01915, HG03117, NA20351, NA20362, NA18865, NA19334, HG03259, HG02982, HG02941, NA19428, NA19324, HG02839, HG02464, HG03419, HG02814, HG01342, HG03103, HG02771, NA19248, HG03112, HG02974, HG02095, HG03442, HG02970, NA19223, HG03313, HG02646, HG03049, HG02053, NA19474, HG02107, HG03063, NA20289, HG03351, HG02768, NA19102, NA18873, HG02679, HG02013, NA19096, HG03401, HG01914, HG01883, NA19121, HG02763, NA19430, NA18505, HG03376, HG02465, HG03072, NA18522, HG02343, HG03439, NA19346, NA19431, HG03265, HG03271, HG03196, HG02760
Known GenesHPR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638998
Frequency
Sample Size2504
Observed Gain189
Observed Loss0
Observed Complex0
Frequencyn/a


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