A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594284



Internal ID6981604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:215962745..215963491hg38UCSC Ensembl
Innerchr2:215962796..215963440hg38UCSC Ensembl
Outerchr2:215962694..215963542hg38UCSC Ensembl
chr2:216827468..216828214hg19UCSC Ensembl
Innerchr2:216827519..216828163hg19UCSC Ensembl
Outerchr2:216827417..216828265hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38747
hg19747
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10846240, essv10846247, essv10846230, essv10846215, essv10846257, essv10846255, essv10846267, essv10846252, essv10846241, essv10846261, essv10846253, essv10846235, essv10846269, essv10846242, essv10846211, essv10846222, essv10846214, essv10846249, essv10846245, essv10846225, essv10846236, essv10846265, essv10846231, essv10846233, essv10846268, essv10846217, essv10846251, essv10846260, essv10846221, essv10846250, essv10846243, essv10846216, essv10846246, essv10846226, essv10846232, essv10846223, essv10846244, essv10846263, essv10846262, essv10846224, essv10846259, essv10846254, essv10846238, essv10846264, essv10846228, essv10846258, essv10846266, essv10846237, essv10846227, essv10846218, essv10846256, essv10846212, essv10846234, essv10846271, essv10846220, essv10846272, essv10846239, essv10846219, essv10846270, essv10846248, essv10846229, essv10846213
SamplesHG03096, HG03121, NA19466, HG02836, HG03558, HG03115, HG02891, NA18486, HG03126, NA19374, HG02811, HG03168, HG03499, HG01488, HG02595, HG03209, HG02703, HG02634, NA19024, NA19207, HG03073, NA18867, HG03270, HG02716, HG03054, HG03160, HG02582, HG02108, HG02554, HG02450, NA18871, NA19031, NA19113, NA19099, HG02585, NA19225, NA19395, HG03109, HG01990, HG03064, NA19017, NA19206, NA19440, NA19454, HG00638, HG02837, HG02982, NA19439, HG02580, HG03419, HG03084, HG03049, NA19716, HG03063, HG02861, HG01082, HG03376, NA18522, NA19346, NA19214, NA19153, NA19431
Known GenesMREG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594284
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer