A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623148



Internal ID6663316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46858808..46987533hg38UCSC Ensembl
chr10:48751829..48880554hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38128726
hg19128726
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv124e214
Supporting Variantsessv13793461, essv13793390, essv13793399, essv13793428, essv13793459, essv13793425, essv13793457, essv13793455, essv13793473, essv13793446, essv13793436, essv13793424, essv13793463, essv13793440, essv13793466, essv13793411, essv13793464, essv13793417, essv13793467, essv13793383, essv13793482, essv13793393, essv13793434, essv13793409, essv13793395, essv13793479, essv13793472, essv13793462, essv13793400, essv13793391, essv13793384, essv13793468, essv13793476, essv13793451, essv13793430, essv13793419, essv13793481, essv13793474, essv13793408, essv13793388, essv13793427, essv13793456, essv13793477, essv13793385, essv13793406, essv13793453, essv13793407, essv13793403, essv13793412, essv13793418, essv13793421, essv13793420, essv13793392, essv13793432, essv13793475, essv13793422, essv13793405, essv13793478, essv13793386, essv13793423, essv13793415, essv13793470, essv13793438, essv13793450, essv13793449, essv13793444, essv13793426, essv13793410, essv13793402, essv13793396, essv13793401, essv13793394, essv13793460, essv13793437, essv13793431, essv13793443, essv13793413, essv13793448, essv13793435, essv13793469, essv13793465, essv13793441, essv13793397, essv13793471, essv13793398, essv13793452, essv13793387, essv13793447, essv13793483, essv13793458, essv13793429, essv13793414, essv13793433, essv13793389, essv13793445, essv13793454, essv13793404, essv13793416, essv13793480, essv13793439, essv13793442
SamplesHG00096, HG04210, HG02628, NA20853, NA20508, NA11995, NA20899, HG04158, NA11920, NA20531, HG03717, HG00640, HG04094, HG00103, NA19819, HG01971, HG02536, NA12400, HG01704, NA19920, HG01140, HG00337, HG00271, NA20814, NA19446, NA19089, NA18519, HG03016, NA19315, HG01702, NA20774, NA20756, NA12287, HG00334, HG00139, NA20759, HG00277, HG03595, NA19372, NA18617, HG01284, HG03777, HG02471, NA12815, HG03352, HG01259, HG02427, HG01771, HG01133, NA19445, NA20587, NA12748, HG01603, NA20854, NA12342, HG04039, HG03644, HG01789, HG02449, HG00101, HG00132, HG03756, NA19776, NA21116, HG00324, HG03824, NA21086, HG03951, HG04173, NA20881, HG01593, HG03634, HG00146, HG04200, HG03934, HG00265, NA19834, HG04026, HG03367, NA12775, HG03838, HG02651, HG03702, HG03012, HG02941, NA19783, HG03108, HG00339, NA20887, HG03600, HG02700, NA20849, NA20786, HG00234, HG00252, NA07056, HG01775, HG02778, HG01437, NA12776, HG01618
Known GenesFRMPD2P1, PTPN20A, PTPN20B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623148
Frequency
Sample Size2504
Observed Gain101
Observed Loss0
Observed Complex0
Frequencyn/a


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