A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661351



Internal ID9927456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182705544..182705725hg38UCSC Ensembl
chr1:182674679..182674860hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6215723, essv5447925, essv6585020, essv5653168, essv6305750, essv6125281, essv6084293, essv5722158, essv6330397, essv5448201, essv6234812, essv6162712, essv6130131, essv5977196, essv5806573, essv6355977, essv5675768, essv5613427, essv6187271, essv6400781, essv5690031, essv6062961, essv5422954, essv5532381, essv5939938, essv6579058, essv6448443, essv6026932, essv5833567, essv5737876, essv6243664, essv5642766, essv5798249, essv6168727, essv6304555, essv5552396, essv5413008, essv5848777, essv5591418, essv5474382, essv5681138, essv6203258, essv6311910, essv6010634, essv6325494, essv6073964, essv5597073, essv5814865, essv5883096, essv5852387, essv5639108, essv6324206, essv5486808, essv5412827, essv5785241, essv5578643, essv6289846, essv5714025, essv6518670, essv6096781, essv6234732, essv6061583, essv5892404
SamplesNA12383, NA18502, NA19397, NA11995, HG00242, NA11933, NA12045, NA19350, NA20294, NA19777, NA12413, NA19374, NA19396, NA19373, HG00251, NA20586, NA19138, NA20336, NA19130, NA20541, HG01134, NA20539, NA19383, HG00335, NA18868, NA19172, NA18520, NA20127, NA12748, HG00260, NA11831, HG01171, NA19403, NA19461, NA11919, NA18853, NA19099, NA12778, NA19395, HG00254, NA11881, NA19147, NA20815, NA20520, NA19144, HG00308, NA19428, NA19467, NA20516, NA20281, HG00256, NA20348, NA19438, NA19472, NA20289, HG00186, NA20503, HG01377, HG01125, NA12006, NA18511, NA12154, NA20754
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661351
Frequency
Sample Size1151
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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