A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678452



Internal ID9944557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6097832..6099456hg38UCSC Ensembl
chr7:6137463..6139087hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg381625
hg191625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6265182, essv6551918, essv6418020, essv6189606, essv5854801, essv5840546, essv5542615, essv6379582, essv6174012, essv6427690, essv6040511, essv6193098, essv6422772, essv6159635, essv6418340, essv6336370, essv5974601, essv6221068, essv6012604, essv5921738, essv6271683, essv5957118, essv6200762, essv6328223, essv5467914, essv6359831, essv6500376, essv5983117, essv5885958, essv5590766, essv5629243, essv6338630, essv5970144, essv6381632, essv5799162, essv5480854, essv6583526, essv5968551, essv6364179, essv6288089, essv6331329, essv6164963, essv5620956, essv6372293, essv6128235, essv5409630, essv5745781
SamplesHG01060, NA12842, NA20543, HG00231, NA20766, NA11920, NA20531, NA19777, NA12400, HG01351, NA07048, HG01354, NA20768, NA20287, HG00311, HG00158, NA19720, HG01170, NA11932, HG01072, NA12889, HG00118, HG01048, NA20757, HG01550, HG01124, HG00313, HG00263, NA19788, HG01149, HG01047, HG01102, NA11919, NA20299, NA12249, HG00321, NA19761, HG00119, NA20815, NA12272, HG00237, HG00116, HG01342, NA19711, HG00345, NA07000, HG01061
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678452
Frequency
Sample Size1151
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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