A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593056



Internal ID6980380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157262492..157263282hg38UCSC Ensembl
Innerchr2:157262492..157263282hg38UCSC Ensembl
Outerchr2:157262271..157263576hg38UCSC Ensembl
chr2:158119004..158119794hg19UCSC Ensembl
Innerchr2:158119004..158119794hg19UCSC Ensembl
Outerchr2:158118783..158120088hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38791
hg19791
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10723828, essv10723835, essv10723840, essv10723827, essv10723848, essv10723829, essv10723831, essv10723853, essv10723859, essv10723852, essv10723839, essv10723833, essv10723832, essv10723824, essv10723856, essv10723819, essv10723838, essv10723849, essv10723845, essv10723830, essv10723858, essv10723823, essv10723834, essv10723843, essv10723820, essv10723842, essv10723851, essv10723818, essv10723836, essv10723837, essv10723855, essv10723844, essv10723846, essv10723821, essv10723822, essv10723841, essv10723857, essv10723825, essv10723826, essv10723850, essv10723854, essv10723847
SamplesHG02496, HG03548, NA19399, NA19914, NA18877, HG03130, NA18870, NA20359, HG03464, NA18489, HG02860, NA19904, NA20291, HG02281, HG02562, HG01067, HG01973, NA19159, HG02946, NA20342, HG01139, HG02307, NA18910, HG02497, HG03124, HG03085, NA19118, HG02807, NA19454, HG02317, NA19117, HG03565, HG02095, NA19102, NA18873, NA18876, HG03401, NA18505, NA19146, NA18522, HG03129, HG02343
Known GenesGALNT5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593056
Frequency
Sample Size2504
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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