A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666815



Internal ID9586234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11928458..11934906hg38UCSC Ensembl
chr19:12039273..12045721hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg386449
hg196449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv623e199
Supporting Variantsessv5882014, essv6190667, essv5506753, essv6581895, essv5592522, essv5852401, essv5933372, essv6248931, essv5624194, essv6031827, essv5445842, essv6574152, essv6174498, essv6071647, essv5556599, essv6302186
SamplesNA19625, HG01052, HG00578, HG00635, HG01148, HG00638, NA19429, NA18910, NA19434, NA19818, NA12546, NA19470, NA18853, HG01489, NA19466, HG01198
Known GenesZNF700
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666815
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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