A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659705



Internal ID9579124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49011851..49011855hg38UCSC Ensembl
Outerchr19:49011698..49012004hg38UCSC Ensembl
Innerchr19:49515112..49515108hg19UCSC Ensembl
Outerchr19:49514955..49515261hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6448489, essv6333688, essv6262565, essv6224034, essv5613923, essv6254918, essv6264624, essv6138154, essv5964893, essv6064743, essv5539317, essv6043947, essv5406066, essv6023659, essv6238920, essv6229223, essv6408060, essv5984647, essv6539985, essv6522844, essv6355359, essv5457588, essv5640408, essv5990359, essv5714851, essv6040581, essv5916645, essv6370774, essv5846087, essv6076689, essv6371837, essv5822975, essv6577497, essv5636019, essv5817934, essv5901972, essv5982512, essv6199650, essv5431048, essv5801786, essv5804876, essv5681963, essv6154297, essv5481468, essv5804348, essv6381494, essv6266079, essv6545055, essv6456205, essv5480290, essv5709229, essv5764668, essv5885269, essv5890701, essv5710639, essv6203515, essv5403041, essv6185669, essv5413599, essv6216799, essv6564157, essv5644274, essv6138444, essv6553327, essv5916855, essv5852811, essv6363085, essv5591302, essv6044907, essv5862688, essv5922659, essv6208105, essv6489993, essv6060569, essv5453704, essv6218630, essv5934768, essv6178543, essv6510819, essv6324187, essv5533282, essv5963326, essv5831492, essv6481513, essv5771976, essv5617505, essv6521844, essv6320619, essv5761718, essv6101159, essv5873960, essv5703569, essv6095263, essv6503434
SamplesHG00613, NA12827, NA12154, NA12489, HG00537, HG00607, HG01353, NA18530, HG00418, NA18561, NA20506, HG00328, HG00437, HG01173, HG01083, NA18612, HG00261, HG01079, NA18603, HG00614, HG01365, HG00428, HG00475, HG01350, NA18546, NA19379, HG01188, HG00557, HG01134, HG00331, HG00319, HG00253, HG00699, NA12287, NA18632, HG00342, NA19762, HG00543, HG00556, NA20505, NA20585, HG00346, HG01384, HG00472, HG01375, HG00421, NA20530, NA18636, NA19088, NA18956, HG00533, NA18609, NA18547, HG00125, NA11831, HG00620, HG01437, HG00108, NA18620, HG01066, HG00263, NA06986, NA19731, HG00672, HG00273, HG00282, HG01069, NA18613, HG00513, HG00246, HG00589, NA18606, NA18940, NA12891, HG00443, HG00650, NA19009, HG00448, NA18577, NA12878, NA19749, HG00285, HG00708, NA19756, NA20528, NA18549, HG01374, HG00473, NA19381, HG00684, NA19758, HG00476, HG00671, NA19087
Known GenesRUVBL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659705
Frequency
Sample Size1151
Observed Gain0
Observed Loss94
Observed Complex0
Frequencyn/a


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