A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3324616



Internal ID14824897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56454674..56454688hg38UCSC Ensembl
Innerchr19:56454665..56454697hg38UCSC Ensembl
Outerchr19:56454649..56454711hg38UCSC Ensembl
chr19:56966043..56966057hg19UCSC Ensembl
Innerchr19:56966034..56966066hg19UCSC Ensembl
Outerchr19:56966018..56966080hg19UCSC Ensembl
chr19:61657855..61657869hg18UCSC Ensembl
Innerchr19:61657878..61657846hg18UCSC Ensembl
Outerchr19:61657830..61657892hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8974845, essv8974875, essv8974851, essv8974872, essv8974846, essv8974861, essv8974858, essv8974863, essv8974857, essv8974865, essv8974871, essv8974873, essv8974868, essv8974867, essv8974864, essv8974852, essv8974856, essv8974884, essv8974880, essv8974850, essv8974876, essv8974849, essv8974878, essv8974874, essv8974862, essv8974879, essv8974853, essv8974847, essv8974855, essv8974860, essv8974866, essv8974854, essv8974877, essv8974869, essv8974882, essv8974883
SamplesNA19137, NA11881, NA12154, NA12249, NA12750, NA18871, NA19114, NA19093, NA11918, NA18570, NA10847, NA12828, NA18608, NA07051, NA18505, NA12044, NA12004, NA11994, NA07357, NA18856, NA11995, NA18916, NA12144, NA12006, NA12716, NA06986, NA18510, NA18564, NA18945, NA10851, NA18552, NA18909, NA12749, NA12003, NA19225, NA12717
Known GenesZNF667
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3324616
Frequency
Sample Size185
Observed Gain36
Observed Loss0
Observed Complex0
Frequencyn/a


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