A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668424



Internal ID9934529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143428546..143431152hg38UCSC Ensembl
Outerchr8:143428175..143431522hg38UCSC Ensembl
Innerchr8:144510716..144513322hg19UCSC Ensembl
Outerchr8:144510345..144513692hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383348
hg193348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5864087, essv5399512, essv6246551, essv5722987, essv6580831, essv6414685, essv5670312, essv6232062, essv5972028, essv5482753, essv6446752, essv5482557, essv5915772, essv6276813, essv6026155, essv5579212, essv6545647, essv5771447, essv5513377, essv6073670, essv5497952, essv5663135, essv6450575, essv6228274, essv6468193, essv6477445, essv6196724, essv5499555, essv6426202, essv5929057, essv6415268, essv6097731, essv6049081, essv5433601, essv5801573, essv5784593, essv5895161, essv6062498, essv5579905, essv6202005, essv5715536, essv6328434, essv5595500, essv6221639, essv6229618, essv5761146, essv6419426, essv6297453, essv6238210, essv5927513, essv5851405, essv6060243, essv6400566, essv6382120, essv5702400, essv6245805, essv6499354, essv6226393, essv6076357, essv5842510, essv6363354, essv6170377, essv6092426, essv5764306, essv5458437, essv5805493, essv6579503, essv5678922, essv6486446, essv6289459, essv6554034, essv6317766, essv6037435, essv6127069
SamplesNA19394, NA19397, NA19466, NA19399, NA19332, NA19350, NA19359, NA19355, NA19393, NA19377, NA19443, NA19446, NA19374, NA19396, NA19373, NA19379, NA19382, NA19448, NA19457, NA19313, NA19384, NA19404, NA19383, NA19372, NA19371, NA19385, NA19471, NA19317, NA19456, NA19445, NA19451, NA19437, NA19403, NA19462, NA19347, NA19391, NA19327, NA19455, NA19461, NA19449, NA19453, NA19338, NA19452, NA19469, NA19395, NA19436, NA19401, NA19375, NA19440, NA19390, NA19434, NA19473, NA19435, NA19334, NA19439, NA19470, NA19428, NA19324, NA19311, NA19467, NA19360, NA19398, NA19328, NA19438, NA19472, NA19468, NA19474, NA19430, NA19316, NA19312, NA19463, NA19429, NA19346, NA19431
Known GenesMAFA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668424
Frequency
Sample Size1151
Observed Gain0
Observed Loss74
Observed Complex0
Frequencyn/a


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