A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670942



Internal ID9937047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18624734..18634871hg38UCSC Ensembl
chr10:18913663..18923800hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3810138
hg1910138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6311749, essv5889476, essv6128663, essv5848065, essv5804124, essv6281066, essv5917608, essv6237426, essv5522154, essv5795751, essv5719258, essv6039426, essv5910446, essv6499027, essv5572080, essv6479901, essv5976184, essv5506191, essv6349095, essv5557040, essv6459424, essv5500587, essv5858163, essv5406658, essv5785940, essv5756729, essv5644475, essv6261629, essv5542324, essv6325188, essv6553703, essv5941713, essv6454949, essv5518416, essv5615065, essv5439088, essv6140727, essv6063614, essv6155740, essv5872902, essv6398952, essv6404575, essv5990888, essv6442548, essv6077731, essv5507980, essv5958543, essv6247535, essv5843786, essv6180746, essv6456658, essv6447365, essv5559907, essv5395888, essv5569443, essv6467595, essv5960046
SamplesHG00442, HG00524, NA18599, HG01389, HG00640, NA18530, HG01051, HG00261, HG01140, HG01350, NA18595, HG00702, HG00689, HG01354, HG01365, HG01072, NA18617, HG00326, NA18908, HG00530, HG01353, HG01136, NA18538, HG00328, NA12342, NA19077, HG00701, HG00657, HG00475, HG00556, HG00583, NA19081, NA18637, HG00500, NA18548, HG00690, HG00404, NA19453, NA18536, HG01107, HG00611, HG00476, HG00336, NA18559, HG00662, HG00418, HG00707, HG00478, NA18631, HG00698, HG00472, NA19004, NA18549, HG00180, NA19429, HG00581, NA19431
Known GenesNSUN6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670942
Frequency
Sample Size1151
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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