A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678714



Internal ID15106234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172690942..172690961hg38UCSC Ensembl
Innerchr3:172690938..172690965hg38UCSC Ensembl
Outerchr3:172690919..172690984hg38UCSC Ensembl
chr3:172408732..172408751hg19UCSC Ensembl
Innerchr3:172408728..172408755hg19UCSC Ensembl
Outerchr3:172408709..172408774hg19UCSC Ensembl
chr3:173891426..173891445hg18UCSC Ensembl
Innerchr3:173891449..173891422hg18UCSC Ensembl
Outerchr3:173891403..173891468hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3390265
Supporting Variants
SamplesNA19240
Known GenesNCEH1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678714
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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