A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678282



Internal ID14749324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5411643..5411662hg38UCSC Ensembl
Innerchr18:5411639..5411666hg38UCSC Ensembl
Outerchr18:5411620..5411685hg38UCSC Ensembl
chr18:5411642..5411661hg19UCSC Ensembl
Innerchr18:5411638..5411665hg19UCSC Ensembl
Outerchr18:5411619..5411684hg19UCSC Ensembl
chr18:5401642..5401661hg18UCSC Ensembl
Innerchr18:5401665..5401638hg18UCSC Ensembl
Outerchr18:5401619..5401684hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3353097
Supporting Variants
SamplesNA19240
Known GenesEPB41L3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678282
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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