A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667768



Internal ID9933873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45753354..45753478hg38UCSC Ensembl
chr17:43830720..43830844hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5706018, essv5556222, essv5762590, essv5810067, essv5609021, essv6009377, essv5688521, essv5708897, essv5664408, essv5534127, essv5400760, essv6351041, essv6337950, essv5508231, essv5760291, essv6381514, essv5642065, essv6183308, essv5435142, essv6119314, essv6451055, essv5981950, essv5619897, essv5778440, essv5749916, essv5615922, essv5714001, essv6032308, essv5825479, essv5417556, essv5554000, essv6244101, essv5696326, essv5483906, essv6464727, essv6199219, essv5422445, essv5499238, essv5559214, essv5901815, essv5855436, essv5790004, essv5664887, essv5606171, essv5667886, essv6050642, essv6448266, essv5697043, essv5795839, essv6488687, essv6113807, essv5813286, essv5666036, essv5497630
SamplesHG01052, HG01188, NA11933, NA11931, HG01374, HG00315, NA20517, HG00138, HG00251, NA20756, NA20513, NA12761, NA20539, HG00277, NA11932, HG01072, HG00326, NA19985, HG01550, NA20515, HG00260, HG01353, HG00137, NA12489, HG01384, HG00328, HG00275, NA20506, NA20519, HG00321, HG00140, HG01334, NA12144, HG00246, HG01107, HG00254, HG00136, NA20520, NA20527, HG00237, NA20516, HG00256, HG00125, HG00310, HG00186, HG00280, NA20528, HG00252, HG01377, HG01378, HG01082, HG00345, NA12006, HG01516
Known GenesCRHR1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667768
Frequency
Sample Size1151
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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