A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676047



Internal ID9942152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4786483..4786661hg38UCSC Ensembl
chr19:4786495..4786673hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5435943, essv6206898, essv5663913, essv6517014, essv5740358, essv5772375, essv6081253, essv6526800, essv5861764, essv6335904, essv5472122, essv6582214, essv6546137, essv5975065, essv5827654, essv5426620, essv6183739, essv5487048, essv6593441, essv6553019, essv6334628, essv5583376, essv6499113, essv5409124, essv5514589, essv5748963, essv6242050, essv6594979, essv5925650, essv5521955, essv5482942, essv5926712, essv5440615, essv6499456, essv5517715, essv6544367, essv6058325, essv5693437, essv6192822, essv5544797, essv5822927, essv6035819, essv6402870, essv5907816, essv6047179, essv5967818, essv6446137, essv5530310, essv6276708, essv6071308, essv5913144, essv5674406, essv6523928, essv5737738, essv5766193, essv6369976, essv5493058, essv5640654, essv6195284, essv5684282, essv6080715, essv5707697, essv5784009, essv6583447, essv5449228, essv5665159, essv6154072, essv5955143, essv6310319, essv5796007, essv6127188, essv5697681, essv5605188, essv5716535, essv6127091, essv6429060, essv5895473, essv6410175, essv5458877, essv6144827, essv6355627, essv5979586, essv5588465, essv5451866, essv5619714, essv5864766, essv5591977, essv6413978, essv6195080, essv6418582, essv6511807, essv5475115, essv5574351, essv5657894, essv5800926, essv6066085, essv6003257
SamplesHG00650, HG01173, NA18621, HG00671, NA18561, HG01374, HG00315, HG00318, HG00699, NA18530, HG00654, HG00693, HG00337, HG00327, HG00271, HG00663, HG00138, HG01350, HG01366, HG00589, HG00251, NA18558, HG00346, NA18582, HG01083, HG01365, NA19384, HG00537, HG00590, NA18611, HG00281, HG00139, HG00277, HG01069, HG00683, HG00232, HG00338, NA18557, HG00323, HG00419, HG01353, HG00313, HG00154, NA18613, HG00268, HG00282, HG00657, HG00475, HG00320, HG00584, HG00533, HG00500, HG00692, HG00324, HG00284, NA18573, NA18532, HG00525, HG00140, HG01334, HG00276, HG00704, HG00246, NA18632, HG00254, HG00336, HG00285, HG00375, HG01174, HG00473, HG00607, HG00237, HG00319, NA19360, HG00256, HG00418, HG00125, HG00707, HG00672, HG00614, HG00513, HG00478, NA18636, HG00310, HG00698, HG00274, HG00252, HG00472, HG01082, NA18624, NA18612, NA18622, HG01061, HG00437, NA18562, HG00581, NA18620
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676047
Frequency
Sample Size1151
Observed Gain0
Observed Loss97
Observed Complex0
Frequencyn/a


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