A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv496e199



Internal ID22758269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55760833..55789380hg38UCSC Ensembl
chr16:55794745..55823292hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3828548
hg1928548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2661656, esv2658850, esv2662252
SamplesHG00403, HG00650, HG00442, NA19058, HG00592, NA19055, HG00536, NA18621, NA18947, NA18592, HG00559, HG00524, NA18980, NA18561, NA18999, NA18603, NA19057, NA18616, HG00449, HG00654, NA19067, NA18602, HG00693, NA18627, HG00663, NA18967, NA18563, NA19005, HG00589, HG00501, HG00702, NA18982, NA18567, NA18547, NA18960, NA18942, NA18618, HG00610, NA18571, HG00537, NA19079, NA18949, HG00512, HG00683, NA18560, HG00534, NA18617, HG00422, HG00705, NA18986, NA19087, NA18990, NA18973, NA18539, NA18638, HG00464, NA18614, HG00543, HG00560, NA18613, HG00629, HG00443, NA19082, NA19070, NA19056, HG00596, HG00428, HG00653, HG00577, HG00657, HG00475, HG00436, NA19081, NA18637, HG00500, NA18579, NA18572, NA18976, NA18534, NA18630, HG00708, NA19064, NA18537, NA18566, NA18573, HG00651, NA19000, NA19084, HG00404, HG00531, HG00479, HG00684, NA18532, HG00525, NA18553, HG00704, HG00463, NA18536, NA18593, NA19012, NA18546, NA18608, HG00611, HG00476, NA18535, NA18961, HG00625, NA18564, HG00565, NA18628, NA18950, HG00580, NA19010, HG00473, NA18943, NA19085, NA18610, HG00620, NA19078, HG00707, HG00614, HG00513, HG00478, NA18631, HG00656, NA18636, NA18609, NA18972, NA18983, HG00595, NA18984, HG00472, NA18989, NA19004, NA18968, NA19065, NA18549, NA18622, HG00437, NA18562, NA18965, NA18620, HG00593
Known GenesCES1P1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv496e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss143
Observed Complex0
Frequencyn/a


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