A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676043



Internal ID9942148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:37936926..37945436hg38UCSC Ensembl
chr3:37978417..37986927hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg388511
hg198511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6451911, essv6006108, essv5855486, essv6554333, essv5999025, essv6016307, essv5432604, essv5492402, essv5757687, essv6086757, essv5455364, essv6434430, essv5812431, essv5496863, essv5808698, essv6364660, essv5832614, essv5994477, essv5478977, essv5711448, essv6043697, essv6053172, essv6023006, essv6399192, essv5400117, essv6191859, essv5834359, essv6099999, essv5557814, essv6493580, essv5607207, essv6297757, essv5969312, essv5427723, essv6063265, essv6072605, essv6284684, essv5845626, essv6158811, essv5579739, essv6138084, essv5936303, essv5516439, essv6247265, essv6261270, essv5450612, essv6434588, essv6037593, essv6038796, essv6536726, essv5869258, essv5486587, essv6538624, essv6273422, essv5703413, essv5968250, essv5884812, essv6440011, essv5765253, essv6313893, essv5680675, essv6404747, essv5449147, essv5581488, essv6215802, essv6106479, essv5993039, essv5869365, essv6172316, essv5779571, essv5873471, essv6458795, essv5962908, essv6030965, essv6596846, essv6553463, essv5693203, essv5811656, essv5661879, essv6575622, essv5603526, essv5847418, essv5499914, essv6307533, essv6012422, essv6322961, essv5771062, essv5454267, essv5558506, essv6205401, essv6268432, essv5525378
SamplesHG00403, HG00143, NA12286, NA19204, HG01359, NA20783, NA20531, HG00257, HG00315, NA20816, NA20813, NA20802, NA20532, NA18603, HG00640, HG00699, NA12340, NA18606, HG00654, NA18550, NA18597, HG00689, NA19723, NA20795, NA19062, NA07347, NA20768, NA12761, HG00120, NA20518, HG00106, NA20819, NA20775, NA11932, HG00182, NA20811, NA19189, NA19789, NA18539, HG01136, NA20535, HG00183, HG01187, HG00328, NA12342, HG00577, NA20521, NA20536, HG00584, NA20126, NA18572, NA20770, NA18548, NA19655, NA11893, HG01383, HG00141, HG01107, NA18576, NA20765, NA18546, NA20799, HG00285, HG00265, NA19712, HG00353, NA20815, NA20804, NA07051, HG01174, NA20530, HG00473, NA20792, NA20504, NA20516, HG00418, NA19398, NA19779, HG00421, NA12749, HG00342, NA18609, HG01125, HG00628, NA18624, NA12006, NA18623, HG00554, HG00180, NA20754, NA18562, HG00593
Known GenesCTDSPL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676043
Frequency
Sample Size1151
Observed Gain0
Observed Loss92
Observed Complex0
Frequencyn/a


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