A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678522



Internal ID9597941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73373866..73374703hg38UCSC Ensembl
chr17:71370005..71370842hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38838
hg19838
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv565e199
Supporting Variantsessv6126400, essv5681820, essv5836817, essv5664699, essv5608822, essv6235738, essv6238776, essv5909494, essv5862414, essv5631593, essv6309603, essv6356678, essv6497288, essv6129756, essv5698035, essv6402286, essv6254664, essv5823672, essv5435319, essv5684485, essv5594527, essv6540463, essv6407551, essv5661752, essv6547967, essv6175709, essv6565258, essv5697735, essv5515318, essv5840030, essv6103133, essv5848574, essv5950088, essv5478422, essv6414596, essv6097127, essv6000367, essv6448448, essv6134426, essv6537510, essv6420922, essv6564201, essv5769054, essv5747792, essv6003075, essv5940657, essv6009940, essv6498006, essv5426318, essv6069113, essv6536267, essv5751568, essv6404760, essv6407139, essv6538398, essv5873453, essv5606354, essv6201065, essv5948275, essv6137746, essv5873265, essv6051505, essv6590477, essv5413870, essv5771744, essv5680450, essv5950800, essv5721542, essv5995988, essv6517285, essv5885718, essv6361398, essv5437764, essv6527144, essv6489950, essv5907073, essv6129836, essv6426538, essv6064666, essv5994339, essv5543658, essv5413053, essv5692623, essv5600279, essv6392577, essv5748377, essv5630156, essv6333255, essv5959390, essv6244586, essv5827665, essv5755031, essv6494990, essv6074020, essv5955174, essv5639168, essv6341666, essv5793353, essv6125412, essv6442868, essv5598179, essv6461544, essv6049649, essv6357093, essv5683332, essv5523361, essv5436630, essv6100243, essv6134860, essv6410596, essv5566918, essv5701952, essv6299887, essv5514185, essv6010414, essv5709350, essv6331259, essv5884237, essv5806832, essv6164592, essv6245403, essv6417786, essv5421962, essv6405375, essv6415265, essv5753778, essv6332920, essv5413123, essv6119319, essv6373784, essv6458665, essv5604900, essv6289643, essv6073236, essv6578508, essv5705866, essv5482763, essv6497496, essv5588221, essv6134736, essv5778027, essv5789172, essv6211134, essv6510953, essv5912704, essv6162751, essv5786053, essv6017131, essv5418834, essv5890766, essv5829193, essv6379106, essv6225066, essv5810846, essv6158591, essv5816899, essv6401474, essv5914568, essv6201062, essv5745553, essv6280530, essv6436782, essv5471722, essv6357705, essv5549192, essv6492355, essv6285483, essv5790322, essv6076353, essv6064857, essv6065110, essv6129075, essv6331085, essv5717803, essv5987691, essv5420165, essv6157353, essv5964851, essv5502885, essv6353249, essv5758094, essv5903273, essv5719808, essv6542913, essv6461698, essv5545780, essv6118648, essv5944255, essv5961411, essv6536151, essv6487786, essv5505667, essv5617649, essv5567753, essv6040508, essv5431430, essv6267808, essv6300415, essv6101484, essv5555028, essv5640725, essv6571327, essv5605925, essv6558013, essv5901752, essv5650740, essv5817689, essv5608683
SamplesHG00626, HG00650, HG00442, HG01173, NA19058, HG00592, NA19055, HG00608, NA19909, NA18621, HG00671, HG00361, HG00559, NA20783, NA18565, NA19704, NA18599, HG01389, NA18603, NA19350, NA19359, NA18486, HG01465, HG00699, NA19057, HG00566, NA18530, HG00449, NA19443, NA20806, NA19067, HG01140, NA19107, HG00663, NA19446, NA19379, NA18519, HG01070, HG00589, NA19382, NA19448, NA18595, NA19678, HG01488, HG01167, NA19723, NA18635, NA19916, HG01492, NA18942, NA19062, NA18574, NA18582, NA18571, HG01083, NA19138, HG00369, NA19681, NA19904, NA18964, HG00537, NA19079, NA19383, NA18874, NA20775, NA18977, NA18868, NA19372, NA19371, NA19238, HG00534, NA19385, HG00705, NA19722, HG00427, NA19901, NA19189, NA18520, HG01198, HG00637, NA19239, NA18985, NA18908, HG00419, NA19789, NA18539, NA12748, NA18605, NA18613, NA19657, HG00443, NA18538, NA19082, NA19070, NA19077, NA19462, NA19347, HG00701, NA19455, HG00436, NA19982, HG00500, NA18910, NA18534, HG00692, HG00635, NA19064, NA18548, HG00740, NA18907, NA19654, HG01073, NA19449, NA19084, HG00690, HG00531, HG00479, NA18499, HG00684, NA19453, HG01101, HG00525, NA12827, NA19059, NA19761, NA19009, NA18555, NA18963, HG00463, NA19469, HG00126, NA18634, NA18593, NA19675, NA18541, HG01204, NA18546, NA20296, NA18953, NA19401, NA19003, NA18632, HG00476, HG00124, NA18542, NA19390, HG01190, NA19834, NA18961, NA18559, NA19712, NA19434, HG00565, NA19072, NA18950, HG00580, NA19240, NA19010, NA19835, HG00473, HG00607, NA19439, NA19470, HG01108, NA19783, HG00662, HG00418, NA19085, NA06986, HG00125, NA19398, NA19078, HG00614, NA19248, NA19438, NA19472, NA19060, HG00421, NA19713, NA19474, NA19093, HG00174, NA19102, NA18873, NA20807, NA19080, NA20826, NA19711, NA18984, HG00472, NA18989, NA19004, HG01125, NA18624, NA19463, NA07000, NA19065, NA18549, NA19346, NA19074, NA18487, HG00553, HG00437, NA18562, HG00581, NA18577, NA20509, HG00593
Known GenesSDK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678522
Frequency
Sample Size1151
Observed Gain0
Observed Loss208
Observed Complex0
Frequencyn/a


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