A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677174



Internal ID9596593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151869543..151873489hg38UCSC Ensembl
chr5:151249104..151253050hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg383947
hg193947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6421540, essv6410673, essv6344401, essv5907572, essv5557910, essv5724578, essv5910297, essv6049817, essv6591986, essv6208999, essv6313823, essv6515696, essv5620273, essv6525857, essv6202519, essv5814352, essv5566368, essv5650225, essv6108129, essv6501676, essv6589758, essv6248993, essv6068440, essv5545431, essv6055751, essv6051820, essv5783355, essv5452200, essv6411348, essv5926814, essv5444130, essv5405267, essv5405952, essv6310281, essv6411197, essv5662205, essv6108365, essv6547411, essv5463693, essv6009760, essv5800594, essv5438326, essv6585070, essv5499920, essv5952805, essv5562612, essv6316969, essv5934535, essv6076986, essv5634076, essv6378266, essv6112309
SamplesNA19397, NA19909, NA19332, NA18917, NA19443, NA19107, NA19374, NA19381, NA19373, NA19379, HG01366, NA19315, NA18489, NA19313, NA18498, HG01069, NA19383, NA19235, NA19456, NA19437, NA19707, NA19403, NA19347, NA19717, NA19455, NA19236, NA18516, NA19982, NA18910, HG01383, HG01101, NA19469, NA19625, NA19401, NA19390, NA19331, NA19835, NA19334, NA19470, NA19428, NA19467, HG01108, NA19360, NA19398, NA19116, NA19900, HG01377, NA19430, HG01082, HG01125, NA18487, HG00553
Known GenesGLRA1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
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


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