A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675061



Internal ID9594480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9161898..9162015hg38UCSC Ensembl
chr17:9065215..9065332hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6347805, essv6310211, essv6198035, essv6371737, essv5535459, essv5720909, essv6037292, essv5773210, essv6406144, essv5697245, essv6461314, essv6474704, essv5586472, essv6539461, essv5847462, essv5970901, essv5514538, essv5406105, essv5576590, essv5795263, essv6322629, essv5820747, essv6140737, essv6217646, essv5915196, essv5488339, essv5429793, essv6043003, essv5987592, essv6318271, essv6493677, essv6142677, essv5819694, essv5509571, essv5914680, essv6060400, essv6185029, essv6413363, essv6056343, essv6077914, essv5954843, essv6435978, essv6363064, essv5805151, essv5695792, essv5910809, essv6160115, essv6215449, essv5813843, essv5765802, essv5936542, essv5988412, essv6409928, essv6329621, essv6253195, essv5454610, essv5941142, essv5417594, essv5689087, essv6519236, essv6083690, essv5840029, essv6113995, essv5409454, essv6542062, essv6219045, essv5498803, essv5704969, essv5620659, essv6022864, essv5538664, essv5616288, essv5908548, essv6287149, essv5718082, essv6094579, essv6271286, essv5502738, essv5409372, essv6160680, essv5417386, essv5706458, essv5798171, essv5982997, essv5586754, essv6169833, essv6416884, essv5974905, essv5589435, essv5554010, essv6443021, essv6084952, essv6022050, essv6285942, essv6268839, essv6533962, essv5864980, essv5994236, essv6304393, essv6271991, essv5894275, essv6008000, essv5939729, essv5482442, essv5470882, essv5919411, essv5967047, essv6139013, essv6271997, essv5535020, essv5637506, essv5939624, essv5935954, essv5643657, essv5874384, essv5607596, essv6101449, essv5398026, essv5743539, essv5575748, essv5817193, essv6112116, essv6183466, essv6102123, essv6450497, essv6472145, essv6305463, essv5509393, essv6473680, essv5495038, essv6239698, essv5605300
SamplesHG01441, HG00380, NA12827, HG00157, NA18861, HG00252, HG01440, NA07347, NA19712, NA12748, NA20522, NA20809, HG01353, HG01072, NA20785, HG01052, HG00328, NA07056, HG01173, HG00369, HG00245, NA19093, HG00155, HG00160, HG00310, NA19455, NA10847, NA11931, HG01051, HG01365, NA20342, NA20778, NA20786, NA19782, HG01350, NA19834, NA20805, NA12776, NA19685, NA19651, NA18488, NA20798, HG00737, HG00253, NA12044, NA20521, NA18873, HG01171, NA19776, NA20340, NA20532, HG00154, HG01254, HG00321, HG00339, NA20515, NA19660, NA19675, HG00259, NA07357, NA18856, NA12273, NA19397, NA19398, NA19440, HG00258, NA11843, NA19985, NA12829, NA19256, HG01113, NA20282, HG00637, HG00243, HG00284, NA12777, NA19684, HG00133, NA20773, NA12006, HG00306, NA19725, HG00124, NA07346, NA12716, NA19771, NA12892, HG00268, HG01066, NA20126, NA20760, NA19384, NA20795, NA19102, HG00263, NA20344, NA19713, HG01069, HG00277, NA20774, HG01351, NA20815, HG00153, HG01060, NA18910, HG00151, NA20581, HG01190, NA18909, HG00138, NA20287, NA19446, NA12878, NA20810, HG00281, HG00285, NA11993, NA12546, NA19655, HG01125, NA20768, NA18853, NA20524, HG00336, NA20502, NA19468, NA20538, NA19385, NA19779, NA19466, HG01067, HG00327
Known GenesNTN1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675061
Frequency
Sample Size1151
Observed Gain0
Observed Loss132
Observed Complex0
Frequencyn/a


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