A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656946



Internal ID9576365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:17381891..17385889hg38UCSC Ensembl
chr16:17475748..17479746hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg383999
hg193999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv482e199
Supporting Variantsessv6348366, essv5772990, essv6253967, essv5689919, essv5920101, essv5467004, essv5996341, essv6279707, essv5582432, essv6281879, essv5430937, essv5948591, essv5910077, essv6121470, essv5489256, essv6175009, essv6231917, essv5728740, essv6500844, essv6015040, essv5503724, essv6549576, essv5781207, essv6066170, essv6035587, essv5949871, essv5625648, essv6344163, essv6172769, essv6299616, essv5844509, essv5696027, essv5874890, essv5977234, essv6517925, essv5912368, essv5509738, essv6208173, essv5625784, essv5532733, essv6122929, essv6591009, essv6175453, essv5765511, essv6368239, essv6446341, essv6059519, essv6230365, essv6067680, essv6178838, essv6492460, essv6010554, essv6221982, essv6175489, essv5735313, essv6083404, essv5503437
SamplesHG00613, NA19012, HG00619, NA18534, NA18535, NA19081, HG00437, HG00464, HG00707, HG01197, HG00614, NA19788, NA18541, HG00701, NA18963, HG00404, NA19651, NA18965, HG01107, HG00556, NA19085, NA19652, HG00421, NA18623, NA18617, NA19066, NA19056, HG00403, NA18634, NA19213, HG00436, NA19725, NA18537, NA18620, NA18633, HG01066, HG00629, HG00560, NA18941, NA18613, HG01070, HG00525, NA19074, NA18987, NA19009, HG00663, NA18989, NA12878, NA19064, NA19225, NA19070, HG00473, HG00671, NA19779, NA19058, HG00531, HG01198
Known GenesXYLT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656946
Frequency
Sample Size1151
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer