A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3365574



Internal ID15212551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:77916340..77916348hg38UCSC Ensembl
Innerchr4:77916334..77916352hg38UCSC Ensembl
Outerchr4:77916328..77916360hg38UCSC Ensembl
chr4:78837494..78837502hg19UCSC Ensembl
Innerchr4:78837488..78837506hg19UCSC Ensembl
Outerchr4:78837482..78837514hg19UCSC Ensembl
chr4:79056518..79056526hg18UCSC Ensembl
Innerchr4:79056530..79056512hg18UCSC Ensembl
Outerchr4:79056506..79056538hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38232
hg19232
hg18232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675659, essv8675658
SamplesNA19238, NA19240
Known GenesMRPL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3365574
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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