A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv347e199



Internal ID22758120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35761448..35762671hg38UCSC Ensembl
chr13:36335585..36336808hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg381224
hg191224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2673199, esv2676349
SamplesHG00403, NA19701, HG00650, NA19466, HG00242, NA18861, HG01066, NA18486, NA19355, NA19819, NA20332, NA19377, NA19443, NA12750, NA18988, HG00663, NA19374, NA19068, NA19373, NA18923, NA19198, NA18498, NA20336, NA19384, NA19130, HG01080, HG00683, NA19917, NA19087, NA19901, HG00118, NA19189, NA18990, NA18557, NA19445, NA19451, NA19908, HG01384, NA19236, NA20344, NA18907, NA19449, NA19084, HG00684, NA19453, NA18912, HG00525, NA19625, NA19675, NA19834, NA19321, NA19434, NA18950, HG00357, NA19444, NA07051, NA19010, NA19835, HG00607, NA19679, NA19439, NA19470, NA19467, NA19818, NA19078, NA18501, NA19472, NA19093, HG00123, NA19080, NA19900, NA18983, HG01082, NA18623, HG01097, NA18562
Known GenesMIR548F5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv347e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


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