A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675406



Internal ID9594825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18618180..18618643hg38UCSC Ensembl
chr8:18475690..18476153hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6010413, essv6003503, essv6482551, essv5564313, essv6400032, essv5400234, essv5691175, essv6354467, essv5532106, essv5555817, essv5708418, essv5474927, essv6466495, essv5985289, essv5811694, essv5685022, essv5942622, essv6258457, essv5469863, essv5700859, essv6254016, essv5708830, essv6130001, essv5424471, essv6135405, essv6412055, essv5741145, essv5863404, essv6330069, essv6346088, essv6347510, essv6435171, essv5517889, essv6525261, essv6169678, essv6212793, essv6561394, essv6463735, essv5930592, essv5882067, essv5419094
SamplesNA12383, HG01060, HG01173, NA20529, HG00142, NA20766, NA11933, NA20813, NA12400, NA12399, NA20814, NA20759, HG00262, HG01176, HG00309, HG00160, HG00159, NA11993, HG00260, NA10847, HG00133, HG00190, NA20506, NA11919, NA19774, NA20581, HG00124, HG00155, HG00366, HG00353, HG00136, NA20520, HG01137, HG00116, NA20797, NA12347, HG01491, NA12830, NA11843, HG01251, HG00554
Known GenesPSD3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675406
Frequency
Sample Size1151
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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