A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718601



Internal ID9952893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42917982..43270798hg38UCSC Ensembl
Outerchr19:43422134..43774950hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38352817
hg19352817
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv524e201
Supporting Variantsessv6717871, essv6898400, essv6682582, essv6810160, essv6921388, essv6729347, essv6941460, essv6667121, essv6914863, essv6792952, essv6898401, essv6717869, essv6792956, essv6835891, essv6707049, essv6780523, essv6917154, essv6717253, essv6667066, essv6863636, essv6877458, essv6812973, essv6725529, essv6784678, essv6961034, essv6917155, essv6674825, essv6717866, essv6801337, essv6846748, essv6780524, essv6937356, essv6717870, essv6781787, essv6721703, essv6892107, essv6707050, essv6792951, essv6947906, essv6846749, essv6921393, essv6846746, essv6868438, essv6753321, essv6707048, essv6692478, essv6692477, essv6877460, essv6852827, essv6921391, essv6674824, essv6967513, essv6921392, essv6784677, essv6729346, essv6863637, essv6839679, essv6863634, essv6917156, essv6883079, essv6868437, essv6783931, essv6905861, essv6843562, essv6738642, essv6703574, essv6839678, essv6781798, essv6843560, essv6761683, essv6717242, essv6925381, essv6741921, essv6954389, essv6885790, essv6858799, essv6703575, essv6824680, essv6901413, essv6814621, essv6792957, essv6883078, essv6788847, essv6946160, essv6839677, essv6797143, essv6725534, essv6967512, essv6967511, essv6961033, essv6703573, essv6703572, essv6841932, essv6863635, essv6753322, essv6753319, essv6852828, essv6946161, essv6758884, essv6769291, essv6753323, essv6828744, essv6773157, essv6946162, essv6816338, essv6741920, essv6928808, essv6921384, essv6816339, essv6725533, essv6744741, essv6725528, essv6667088, essv6814610, essv6921383, essv6914874, essv6812975, essv6874467, essv6874466, essv6921386, essv6852826, essv6810161, essv6843563, essv6846752, essv6874470, essv6846747
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM075, SSM045, SSM046, SSM064, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM009, SSM050, SSM088, SSM002, SSM057, SSM023, SSM092, SSM084, SSM021, SSM018, SSM069, SSM061, SSM026, SSM089, SSM017, SSM019, SSM094, SSM003, SSM031, SSM067, SSM044, SSM001, SSM086, SSM033, SSM006, SSM085, SSM068, SSM040, SSM072, SSM082, SSM016, SSM053, SSM080, SSM077, SSM076, SSM022, SSM010, SSM091, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052
Known GenesLOC284344, PSG11, PSG2, PSG4, PSG5, PSG7, PSG9
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2718601
Frequency
Sample Size96
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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