A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616620



Internal ID6656816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23013045..23013759hg38UCSC Ensembl
Innerchr8:23013128..23013709hg38UCSC Ensembl
Outerchr8:23012889..23013915hg38UCSC Ensembl
chr8:22870558..22871272hg19UCSC Ensembl
Innerchr8:22870641..22871222hg19UCSC Ensembl
Outerchr8:22870402..22871428hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38715
hg19715
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13134409, essv13134422, essv13134421, essv13134417, essv13134426, essv13134415, essv13134442, essv13134437, essv13134411, essv13134436, essv13134441, essv13134406, essv13134420, essv13134416, essv13134410, essv13134414, essv13134430, essv13134438, essv13134439, essv13134412, essv13134419, essv13134427, essv13134433, essv13134440, essv13134424, essv13134431, essv13134434, essv13134404, essv13134425, essv13134429, essv13134432, essv13134413, essv13134405, essv13134407, essv13134435, essv13134408, essv13134428, essv13134418, essv13134423
SamplesHG02574, NA18508, HG02798, HG02891, HG03130, HG03172, NA19379, HG03168, HG02810, HG03452, NA19916, HG03578, HG03224, HG02642, NA19026, NA18520, HG03225, HG03073, HG03583, HG03343, HG02943, HG02322, HG03457, HG03294, HG02817, HG03024, HG02979, HG01190, NA19834, HG03539, HG02721, NA19037, HG03097, NA20289, HG02013, NA19096, HG03470, HG02465, HG03439
Known GenesRHOBTB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616620
Frequency
Sample Size2504
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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