A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669922



Internal ID9936027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99037564..99038873hg38UCSC Ensembl
chr14:99503901..99505210hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381310
hg191310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv412e199
Supporting Variantsessv6311722, essv5594370, essv6576223, essv5567915, essv5924510, essv5979147, essv5931086, essv5954076, essv5496430, essv5508160, essv6257789, essv6439047, essv6021071, essv6025140, essv6369258, essv6080220, essv5774430, essv5687893, essv5713443, essv5984512, essv6525363, essv5445351, essv5925071, essv6047808, essv5641451, essv5593174, essv5408808, essv6448339, essv6239117, essv6563306, essv5692099, essv6052698, essv6472221, essv6101467, essv6279738, essv6336562
SamplesHG01173, NA19909, HG00249, HG01359, HG00261, HG00271, HG00281, HG00156, HG01072, NA19372, NA19002, HG00178, HG00313, HG01136, NA19717, NA19455, NA19663, HG00275, HG01334, HG01107, HG00119, NA20790, HG01375, NA19470, HG00256, HG01489, HG00269, NA19438, NA19472, NA19779, HG00329, NA19468, HG00267, NA19430, HG01191, NA20754
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669922
Frequency
Sample Size1151
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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