A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610316



Internal ID6997233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108289328..108293875hg38UCSC Ensembl
Innerchr6:108289478..108293725hg38UCSC Ensembl
Outerchr6:108289178..108294025hg38UCSC Ensembl
chr6:108610532..108615079hg19UCSC Ensembl
Innerchr6:108610682..108614929hg19UCSC Ensembl
Outerchr6:108610382..108615229hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg384548
hg194548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12499570, essv12499521, essv12499546, essv12499543, essv12499573, essv12499562, essv12499586, essv12499552, essv12499559, essv12499554, essv12499525, essv12499555, essv12499566, essv12499534, essv12499541, essv12499536, essv12499587, essv12499520, essv12499530, essv12499526, essv12499561, essv12499535, essv12499576, essv12499529, essv12499560, essv12499558, essv12499522, essv12499527, essv12499582, essv12499568, essv12499578, essv12499567, essv12499551, essv12499550, essv12499575, essv12499569, essv12499574, essv12499580, essv12499545, essv12499533, essv12499557, essv12499581, essv12499553, essv12499548, essv12499544, essv12499556, essv12499588, essv12499583, essv12499539, essv12499564, essv12499540, essv12499584, essv12499579, essv12499542, essv12499577, essv12499531, essv12499538, essv12499571, essv12499572, essv12499528, essv12499524, essv12499565, essv12499547, essv12499537, essv12499549, essv12499532, essv12499523, essv12499585, essv12499563
SamplesHG04212, HG02658, NA20543, HG01303, NA20766, HG04222, HG01970, HG03941, HG01531, HG00737, NA20894, HG01513, HG04059, NA20814, HG01571, HG01953, HG01702, HG01488, HG04144, HG03673, HG00736, NA20822, HG04131, NA20513, HG02505, HG02278, NA19922, HG00106, NA20775, HG01284, HG02420, NA19722, HG02260, HG01048, HG01058, NA20587, HG00739, NA12777, HG01248, HG01200, NA20787, NA20505, HG03928, HG03945, HG01447, HG03742, HG01197, NA20538, HG02601, HG02725, HG02635, HG00353, HG04186, HG03695, HG00319, HG03681, NA20888, HG01395, HG01491, NA21088, HG01556, HG03716, HG01479, HG01377, HG04056, NA20763, HG03867, HG01097, NA19676
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610316
Frequency
Sample Size2504
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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