A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596375



Internal ID6636646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62624859..62626508hg38UCSC Ensembl
Innerchr3:62624876..62626491hg38UCSC Ensembl
Outerchr3:62624842..62626525hg38UCSC Ensembl
chr3:62610534..62612183hg19UCSC Ensembl
Innerchr3:62610551..62612166hg19UCSC Ensembl
Outerchr3:62610517..62612200hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg381650
hg191650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11026403, essv11026458, essv11026417, essv11026481, essv11026432, essv11026430, essv11026454, essv11026496, essv11026506, essv11026497, essv11026399, essv11026494, essv11026466, essv11026479, essv11026405, essv11026420, essv11026467, essv11026460, essv11026440, essv11026513, essv11026498, essv11026404, essv11026472, essv11026424, essv11026438, essv11026437, essv11026471, essv11026474, essv11026448, essv11026478, essv11026429, essv11026453, essv11026489, essv11026385, essv11026446, essv11026449, essv11026395, essv11026406, essv11026475, essv11026450, essv11026383, essv11026463, essv11026408, essv11026423, essv11026456, essv11026393, essv11026411, essv11026433, essv11026394, essv11026515, essv11026442, essv11026477, essv11026412, essv11026416, essv11026511, essv11026428, essv11026439, essv11026464, essv11026387, essv11026421, essv11026483, essv11026386, essv11026388, essv11026434, essv11026476, essv11026419, essv11026445, essv11026413, essv11026427, essv11026482, essv11026468, essv11026508, essv11026392, essv11026435, essv11026505, essv11026382, essv11026452, essv11026485, essv11026443, essv11026400, essv11026501, essv11026415, essv11026484, essv11026425, essv11026414, essv11026493, essv11026500, essv11026451, essv11026488, essv11026503, essv11026512, essv11026499, essv11026447, essv11026390, essv11026469, essv11026487, essv11026418, essv11026461, essv11026410, essv11026422, essv11026462, essv11026480, essv11026396, essv11026402, essv11026441, essv11026495, essv11026486, essv11026455, essv11026391, essv11026409, essv11026389, essv11026401, essv11026444, essv11026473, essv11026398, essv11026465, essv11026397, essv11026426, essv11026514, essv11026491, essv11026431, essv11026407, essv11026509, essv11026502, essv11026490, essv11026457, essv11026507, essv11026470, essv11026510, essv11026436, essv11026459, essv11026504, essv11026492, essv11026384
SamplesHG03136, HG02666, HG03370, NA20281, HG02317, NA19248, HG02427, NA19214, HG01241, HG02970, HG03280, NA18523, NA19437, HG02546, HG01882, HG02983, HG03410, HG02549, HG03129, HG02759, HG02255, HG03247, NA20294, HG03313, HG01051, NA18877, HG02014, HG01956, HG02722, HG02887, NA19338, HG03048, HG03298, HG03099, NA18507, HG03294, NA19320, NA18488, HG03378, HG02583, HG03039, HG01551, NA19147, NA19143, NA20340, HG01468, HG02308, HG02870, HG02585, HG03558, HG02588, NA19914, HG03088, NA19383, HG03470, NA18508, NA19239, HG02462, NA19107, HG03578, HG02772, HG02861, HG03241, NA19351, HG02851, HG03024, HG03539, HG03565, HG03027, NA19457, HG03114, HG02756, NA19213, HG02888, HG03225, HG02814, HG02840, HG03126, HG02442, HG02878, HG02562, HG03473, NA18522, HG02343, HG03069, HG02502, HG02571, NA19159, HG03118, HG02624, HG03132, HG03028, NA19376, HG03303, HG02819, NA18909, NA20332, HG03045, HG01269, HG02628, HG02561, HG03081, HG02465, NA19041, NA19225, HG02702, HG03074, HG03259, NA19399, HG02679, NA18499, HG02476, HG03077, NA19916, HG02485, HG02642, NA19171, HG01985, HG03271, HG03388, NA19204, HG01462, HG02315, NA19473, HG03517, NA19185, HG02505, NA19454, HG02332, HG02860, NA19200, HG02820, HG03091, NA19439
Known GenesCADPS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596375
Frequency
Sample Size2504
Observed Gain0
Observed Loss134
Observed Complex0
Frequencyn/a


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