A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592749



Internal ID6633032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143168564..143170140hg38UCSC Ensembl
Innerchr2:143168564..143170140hg38UCSC Ensembl
Outerchr2:143168264..143170498hg38UCSC Ensembl
chr2:143926133..143927709hg19UCSC Ensembl
Innerchr2:143926133..143927709hg19UCSC Ensembl
Outerchr2:143925833..143928067hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg381577
hg191577
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10694970, essv10694985, essv10694980, essv10694981, essv10694972, essv10694964, essv10694963, essv10694958, essv10694973, essv10694975, essv10694988, essv10694976, essv10694962, essv10694971, essv10694977, essv10694968, essv10694967, essv10694982, essv10694956, essv10694969, essv10694984, essv10694966, essv10694978, essv10694986, essv10694961, essv10694979, essv10694987, essv10694959, essv10694974, essv10694957, essv10694960, essv10694983, essv10694965
SamplesHG01610, HG03858, HG01612, HG01130, HG02734, HG01079, HG03642, NA20861, HG03897, HG00115, NA20854, NA11840, HG00231, HG03787, HG03805, NA21119, NA21144, HG00108, HG03854, HG00255, HG03873, HG00102, HG00116, HG01334, HG03644, HG03925, HG04035, HG01390, HG03615, HG03802, HG03885, HG03837, NA21091
Known GenesARHGAP15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592749
Frequency
Sample Size2504
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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