A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3339311



Internal ID15186298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:98525601..98525641hg38UCSC Ensembl
Innerchr4:98525602..98525638hg38UCSC Ensembl
Outerchr4:98525562..98525680hg38UCSC Ensembl
chr4:99446752..99446792hg19UCSC Ensembl
Innerchr4:99446753..99446789hg19UCSC Ensembl
Outerchr4:99446713..99446831hg19UCSC Ensembl
chr4:99665775..99665815hg18UCSC Ensembl
Innerchr4:99665812..99665776hg18UCSC Ensembl
Outerchr4:99665736..99665854hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8919946, essv8919940, essv8919938, essv8919945, essv8919942, essv8919933, essv8919931, essv8919925, essv8919944, essv8919929, essv8919932, essv8919934, essv8919936, essv8919939, essv8919941, essv8919930, essv8919928, essv8919943, essv8919935, essv8919927
SamplesNA18861, NA18508, NA10851, NA12414, NA11931, NA07346, NA12287, NA18949, NA12828, NA18956, NA18523, NA18858, NA18945, NA11881, NA19108, NA18517, NA19093, NA18505, NA12154, NA18965
Known GenesTSPAN5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3339311
Frequency
Sample Size185
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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