A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613093



Internal ID6999991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48684897..48689737hg38UCSC Ensembl
Innerchr7:48684897..48689737hg38UCSC Ensembl
Outerchr7:48684397..48690237hg38UCSC Ensembl
chr7:48724493..48729333hg19UCSC Ensembl
Innerchr7:48724493..48729333hg19UCSC Ensembl
Outerchr7:48723993..48729833hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg384841
hg194841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12764483, essv12764452, essv12764429, essv12764475, essv12764523, essv12764436, essv12764420, essv12764504, essv12764461, essv12764542, essv12764421, essv12764535, essv12764469, essv12764537, essv12764541, essv12764531, essv12764422, essv12764481, essv12764539, essv12764428, essv12764449, essv12764434, essv12764418, essv12764474, essv12764533, essv12764423, essv12764536, essv12764456, essv12764446, essv12764484, essv12764466, essv12764432, essv12764472, essv12764529, essv12764441, essv12764538, essv12764450, essv12764540, essv12764487, essv12764497, essv12764478, essv12764482, essv12764488, essv12764416, essv12764414, essv12764528, essv12764512, essv12764444, essv12764477, essv12764431, essv12764500, essv12764493, essv12764427, essv12764424, essv12764465, essv12764507, essv12764501, essv12764517, essv12764419, essv12764532, essv12764437, essv12764440, essv12764458, essv12764524, essv12764511, essv12764515, essv12764496, essv12764502, essv12764479, essv12764514, essv12764518, essv12764489, essv12764460, essv12764486, essv12764498, essv12764433, essv12764526, essv12764413, essv12764439, essv12764503, essv12764525, essv12764505, essv12764430, essv12764509, essv12764513, essv12764476, essv12764485, essv12764462, essv12764453, essv12764426, essv12764464, essv12764468, essv12764534, essv12764520, essv12764522, essv12764492, essv12764473, essv12764438, essv12764425, essv12764506, essv12764412, essv12764499, essv12764451, essv12764508, essv12764494, essv12764442, essv12764459, essv12764491, essv12764415, essv12764467, essv12764457, essv12764454, essv12764527, essv12764448, essv12764435, essv12764490, essv12764417, essv12764445, essv12764470, essv12764471, essv12764480, essv12764521, essv12764447, essv12764495, essv12764516, essv12764443, essv12764510, essv12764463, essv12764455, essv12764530, essv12764519
SamplesNA19141, HG01795, HG01054, NA21111, NA20891, HG01624, NA11995, HG00384, NA19066, HG04158, HG00315, HG00151, HG02360, NA20321, HG03772, NA12340, HG02384, HG04001, NA20806, NA19068, HG01325, HG03086, HG04022, HG03499, HG02952, HG02140, HG01177, NA20320, HG00689, NA18982, NA19198, NA18567, HG03873, HG03765, HG04144, HG00238, HG00458, NA18960, HG02085, HG03578, NA20513, NA18964, HG01393, NA19079, HG02489, HG04214, NA20812, HG02389, HG03788, HG04106, NA18748, HG03947, HG01673, NA18986, HG04020, HG00326, HG03394, NA20755, HG00188, NA20535, HG02136, HG03861, HG01841, HG03685, HG01670, HG00145, HG01247, HG03644, HG02152, HG00428, HG00360, NA19462, NA18644, NA20760, NA18516, HG03457, HG03900, HG02307, NA20770, HG00708, NA21116, HG02555, HG03742, NA19118, NA19000, HG01762, HG00404, NA21141, HG00331, NA11840, HG00684, HG02121, NA20856, HG03625, HG03006, NA20828, NA19440, NA18535, HG02010, HG01915, NA19331, HG03689, NA20790, HG03702, HG01623, HG01205, HG00607, HG02839, NA21126, HG01801, HG01765, HG01770, NA18631, HG03849, HG00378, NA18994, HG03060, HG01089, NA19770, HG00698, HG00280, HG00234, NA19080, HG03077, NA18552, HG02681, NA18983, HG03815, NA18612, HG02406, HG01786
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613093
Frequency
Sample Size2504
Observed Gain0
Observed Loss131
Observed Complex0
Frequencyn/a


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