A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662041



Internal ID9581460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42730767..42731113hg38UCSC Ensembl
chr8:42585910..42586256hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6235373, essv5403014, essv5823094, essv5454913, essv5625215, essv6489541, essv5832399, essv5517723, essv5895029, essv6032752, essv6102593, essv5733723, essv6562617, essv5948761, essv6159800, essv6365360, essv6312619, essv6001813, essv6106565, essv5565346, essv5599352, essv6423339, essv6446651, essv6218906, essv5605031, essv6118724, essv5954609, essv6044059, essv6533951, essv6294449, essv5825991, essv5785563, essv6155320, essv6421781, essv5491293, essv5538960, essv5783251, essv5558458, essv6142877, essv5921690, essv5576318, essv5717107, essv6581363, essv6056828, essv5888883, essv5937460, essv6224191, essv5649144, essv5528814, essv6213727, essv6312624, essv5658253, essv5553490, essv5989393, essv6274743
SamplesNA19312, NA19904, NA20522, HG01072, NA18874, NA19401, NA20531, NA11918, NA19223, NA19435, NA20299, HG01079, HG01197, NA18517, HG00148, NA19920, HG00334, HG00335, NA19472, NA19463, NA19428, NA18508, HG01375, NA11994, NA19443, HG00372, HG01183, NA19398, NA19429, HG00178, NA19676, NA19360, NA19372, HG00282, NA19332, NA20542, NA19328, NA19382, NA19711, HG00120, NA19138, NA20276, NA20799, NA12889, HG00118, NA19452, NA18917, NA19655, NA19315, NA11829, HG01177, HG01462, NA19473, HG01377, NA19456
Known GenesCHRNB3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662041
Frequency
Sample Size1151
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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