A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3331791



Internal ID15178780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53463644..53464731hg38UCSC Ensembl
Innerchr4:53463704..53464662hg38UCSC Ensembl
Outerchr4:53463554..53464772hg38UCSC Ensembl
chr4:54329811..54330898hg19UCSC Ensembl
Innerchr4:54329871..54330829hg19UCSC Ensembl
Outerchr4:54329721..54330939hg19UCSC Ensembl
chr4:54024568..54025655hg18UCSC Ensembl
Innerchr4:54024628..54025586hg18UCSC Ensembl
Outerchr4:54024478..54025696hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381088
hg191088
hg181088
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8700231
SamplesNA12878
Known GenesLNX1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3331791
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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