A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9668280



Internal ID14564714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40747667..40747686hg38UCSC Ensembl
Innerchr15:40747663..40747690hg38UCSC Ensembl
Outerchr15:40747644..40747709hg38UCSC Ensembl
chr15:41039865..41039884hg19UCSC Ensembl
Innerchr15:41039861..41039888hg19UCSC Ensembl
Outerchr15:41039842..41039907hg19UCSC Ensembl
chr15:38827157..38827176hg18UCSC Ensembl
Innerchr15:38827180..38827153hg18UCSC Ensembl
Outerchr15:38827134..38827199hg18UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3450260
Supporting Variants
SamplesNA19141
Known GenesRMDN3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9668280
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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