A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668035



Internal ID9934140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55202867..55206061hg38UCSC Ensembl
chr19:55714235..55717429hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg383195
hg193195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6137058, essv6344094, essv6007327, essv5807020, essv6547940, essv5798228, essv5635515, essv5478265, essv5867222, essv6408468, essv5633018, essv6374031, essv5471624, essv6027865, essv5398225, essv5727834, essv6344047, essv6326119, essv6121419, essv6135189, essv6167979, essv6227528, essv5488032, essv6097417, essv5456953, essv6568054, essv5411850, essv5919366, essv5903640, essv5616399, essv5547716
SamplesHG00671, HG01052, NA19393, HG00566, HG01140, NA20537, HG00641, NA19381, HG00689, NA19782, NA19384, HG00139, HG01069, NA19383, HG01519, NA19901, NA18934, NA19403, NA19982, NA06989, NA19761, NA19469, NA19401, NA19321, HG00319, NA19360, HG00418, NA19779, HG00112, NA19213, NA18511
Known GenesPTPRH
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668035
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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