A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677485



Internal ID9943590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196334794..196335146hg38UCSC Ensembl
chr3:196061665..196062017hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6339394, essv5476793, essv5406460, essv6267103, essv6443933, essv5460752, essv5678564, essv5609321, essv5476034, essv5491077, essv5908968, essv6007341, essv5877017, essv6153621, essv5938096, essv6231531, essv5507251, essv5911940, essv5843583, essv5604556, essv5492041, essv6451894, essv5969113, essv6178422, essv6473348, essv6588404, essv6443278, essv6427570, essv6173948, essv5411633
SamplesNA19399, NA20346, NA07346, NA19374, HG01350, HG00702, NA18916, NA20287, HG00537, NA20340, NA20342, HG00108, NA18933, HG00657, HG00140, HG01497, NA19225, NA19401, NA19375, NA18559, HG00473, NA20504, NA19428, HG01108, NA20281, HG00125, NA19376, HG00614, HG00342, HG00280
Known GenesTM4SF19, TM4SF19-TCTEX1D2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677485
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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