A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677174



Internal ID4721508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151249104..151253050hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv5800594, essv6068440, essv5634076, essv6076986, essv6055751, essv6344401, essv6108365, essv6112309, essv6316969, essv5952805, essv5499920, essv6410673, essv5557910, essv5910297, essv5814352, essv5724578, essv5438326, essv5620273, essv6515696, essv6049817, essv6248993, essv5907572, essv6202519, essv5662205, essv6421540, essv5926814, essv6313823, essv5566368, essv5452200, essv5545431, essv6411197, essv6108129, essv6589758, essv5444130, essv6585070, essv5934535, essv5405267, essv6009760, essv5463693, essv6378266, essv6501676, essv6310281, essv6525857, essv5562612, essv5783355, essv5650225, essv5405952, essv6547411, essv6208999, essv6591986, essv6411348, essv6051820
SamplesNA19625, NA19437, NA19401, NA19469, NA19455, NA19430, NA18516, NA19334, NA19331, HG01082, HG00553, NA18489, NA19379, HG01101, NA19236, NA19467, NA19428, NA19383, NA19982, NA19390, NA19443, NA19900, NA19107, NA19397, NA19398, NA19835, NA19360, NA19313, NA19374, NA19373, NA18498, HG01069, NA18487, NA19347, NA19332, NA19909, NA19707, NA18910, HG01383, NA19235, NA19403, NA19116, NA18917, NA19717, HG01366, HG01108, NA19470, NA19315, HG01125, NA19381, HG01377, NA19456
Known GenesGLRA1
Method
Analysis
Platform
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677174
Frequency
Sample Size1151
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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