A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662218



Internal ID9928323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:52103416..52329659hg38UCSC Ensembl
chr7:52171112..52397355hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38226244
hg19226244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5835144, essv5678675, essv6417186, essv6468573, essv5806915, essv5607036, essv5873215, essv6467728, essv6199585, essv5807349, essv5775276, essv5898896, essv5701119, essv5850558, essv6064194, essv5575581, essv5952500, essv5442129, essv6527465, essv6345595, essv5762579, essv6505318, essv6585189, essv5497726, essv5692102, essv5404827, essv6079622, essv5893383, essv5718023, essv6303252, essv6206550, essv6572285, essv5739955, essv6528140, essv5757185, essv6216537, essv5770246, essv5656640, essv6491476, essv5807699, essv6309054, essv6428509, essv5521808, essv6218191
SamplesNA20761, HG01359, HG00306, NA20816, HG00367, NA19819, NA18596, NA18959, NA20808, NA12400, NA20806, HG00272, NA18619, NA20769, NA18498, HG00311, HG01134, NA20759, HG01067, NA20812, NA19372, NA19471, NA19087, NA18908, NA19064, HG00740, NA19084, NA20581, NA19059, NA18555, NA19834, NA18628, NA20804, NA12046, NA19439, NA19083, NA20797, HG00111, NA18631, HG01055, HG00377, NA19312, NA19463, NA19074
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662218
Frequency
Sample Size1151
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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