A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662783



Internal ID9928888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16197507..16198724hg38UCSC Ensembl
chr7:16237132..16238349hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg381218
hg191218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5850261, essv5840593, essv5968954, essv6311580, essv6335720, essv5904729, essv6500355, essv6261505, essv5873015, essv5909148, essv6586089, essv6031731, essv5710288, essv6564654, essv5643922, essv6557047, essv5956292, essv6595709, essv6547367, essv6417557, essv5577568, essv5477846, essv5715373, essv6139050, essv5851798, essv6409203, essv6527211, essv5750798, essv5598134, essv6237403, essv6097343, essv5434185, essv6494766, essv6386984, essv5568901, essv6210664, essv5470321, essv5474370, essv5968922, essv6061375, essv5559950, essv5488249, essv6508461, essv6125023, essv6500934, essv5841929, essv6544072, essv5868700, essv6565808, essv5784756, essv6086569, essv6238014, essv6344710, essv6565491, essv5970562, essv5968448, essv5553217, essv5502975, essv6435285, essv5746089, essv6292499, essv6391088, essv6225943, essv6377458, essv5808599, essv6464934, essv6310504, essv6029033, essv6127049, essv5446334, essv6298368, essv6299847, essv6134759, essv6268726, essv6133687, essv5625603, essv5965445, essv5676103, essv5460668, essv5917027, essv5700506, essv5561819, essv5763240, essv5733132, essv6520073, essv5772335, essv6491958, essv5586546, essv6320115, essv5824391, essv5987505, essv5611818, essv5501938, essv6228562, essv6526098, essv6128215, essv5958784, essv6232855, essv5670309, essv5515418, essv5491021, essv6238648, essv6374740, essv6005384, essv6305734, essv6430430, essv6368605, essv6400548, essv6072775, essv5769921, essv6245654, essv6336503, essv6557983, essv6051507, essv5653424, essv6067718, essv5626212
SamplesHG00542, HG00592, HG00536, NA18621, NA19466, HG00361, NA18508, NA18565, NA18980, NA20816, NA18999, HG00699, NA18545, NA19057, NA18596, NA18530, NA12058, NA18616, HG00449, NA18633, HG00693, NA18988, NA18627, HG00663, NA19382, NA18595, HG00702, NA20774, NA18635, NA18567, HG00610, NA19384, HG01069, HG00683, NA19917, NA18560, NA11994, HG00534, HG00159, HG00530, HG00419, NA19921, NA18638, NA18614, HG00133, NA18544, HG00560, NA18613, HG00443, NA18538, HG00268, HG00183, NA19082, NA19056, HG00653, HG00701, HG00475, HG00436, HG00556, HG00320, HG00533, NA18534, HG00619, HG00692, HG00635, NA19064, NA19084, HG00690, HG00404, HG00684, HG00525, NA18553, NA19059, NA18963, HG00704, HG00463, NA18634, NA18541, NA19012, NA18546, NA19401, HG00611, NA18632, HG00476, NA18535, NA18559, NA19473, NA18950, HG00580, HG00734, HG00278, HG00473, NA19360, HG00662, NA19085, NA18615, HG00672, HG00614, HG00513, HG00421, HG00656, NA19716, HG00174, NA18636, HG00698, NA20758, NA18983, HG01125, NA18624, NA19063, NA19065, NA18549, HG01191, NA19074, HG00437, NA20509, NA18620
Known GenesISPD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662783
Frequency
Sample Size1151
Observed Gain0
Observed Loss117
Observed Complex0
Frequencyn/a


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