A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383174



Internal ID15230145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:67233512..67233525hg38UCSC Ensembl
Innerchr4:67233488..67233549hg38UCSC Ensembl
Outerchr4:67233475..67233562hg38UCSC Ensembl
chr4:68099230..68099243hg19UCSC Ensembl
Innerchr4:68099206..68099267hg19UCSC Ensembl
Outerchr4:68099193..68099280hg19UCSC Ensembl
chr4:67781825..67781838hg18UCSC Ensembl
Innerchr4:67781862..67781801hg18UCSC Ensembl
Outerchr4:67781788..67781875hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864333
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383174
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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