A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1286e199



Internal ID22759059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50311485..50315932hg38UCSC Ensembl
chr8:51224045..51228492hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg384448
hg194448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2676293, esv2657988
SamplesHG00403, NA19394, HG00442, HG01173, HG01356, HG00536, NA19397, NA18861, NA18507, NA18596, NA18504, NA19684, NA18530, NA18959, NA18616, HG01051, HG00693, NA18627, NA19107, HG00663, NA19068, NA19005, HG00589, NA18489, NA19728, NA19448, HG00689, HG00448, NA19723, NA18923, NA20317, HG00610, NA18574, NA19088, NA18571, NA19054, NA19681, NA20291, NA19130, NA19079, HG01069, NA18874, HG01495, NA19719, NA19371, NA19731, NA19317, HG00705, NA19159, NA19189, NA19209, NA19445, NA18908, NA19200, NA18544, NA18605, NA19908, NA19247, HG00443, NA19347, NA19152, NA18956, NA19327, HG00475, HG00556, NA19081, HG00500, NA18579, NA18534, HG00619, NA19064, HG01073, NA20299, HG00404, HG00531, NA19453, NA19009, NA18555, NA19682, NA19756, NA18570, NA18546, HG01148, NA18542, NA19390, NA18909, NA19108, NA18952, NA18559, HG00565, NA19072, NA19773, NA19835, NA19783, HG00662, NA19085, NA19818, NA19398, HG00513, NA20348, NA19248, NA19472, NA19779, NA19060, HG00656, NA20334, HG01254, NA19093, NA18609, NA19770, HG00698, NA19711, NA19213, NA18989, NA18488, HG01125, NA18623, NA18487, HG01061, NA19431, NA18965, NA18577
Known GenesSNTG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1286e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss122
Observed Complex0
Frequencyn/a


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