A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643834



Internal ID6683903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18192120..18200529hg38UCSC Ensembl
chr19:18302930..18311339hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg388410
hg198410
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16003869, essv16003865, essv16003864, essv16003878, essv16003873, essv16003875, essv16003863, essv16003861, essv16003860, essv16003868, essv16003851, essv16003852, essv16003856, essv16003857, essv16003862, essv16003874, essv16003872, essv16003871, essv16003870, essv16003854, essv16003853, essv16003858, essv16003876, essv16003850, essv16003867, essv16003855, essv16003859, essv16003877, essv16003866
SamplesNA18979, HG03926, HG02382, HG02153, HG00589, HG00689, HG03594, HG03826, NA18951, NA18538, HG02025, HG02084, HG01796, HG00651, HG01708, HG00704, HG03598, HG03833, HG02223, NA18591, HG00409, NA20758, HG00728, HG01431, HG00472, HG01464, HG01378, HG00593, NA18997
Known GenesMPV17L2, RAB3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643834
Frequency
Sample Size2504
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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