A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8927927



Internal ID14266951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12101943..12101953hg38UCSC Ensembl
Innerchr6:12101937..12101957hg38UCSC Ensembl
Outerchr6:12101927..12101969hg38UCSC Ensembl
chr6:12102176..12102186hg19UCSC Ensembl
Innerchr6:12102170..12102190hg19UCSC Ensembl
Outerchr6:12102160..12102202hg19UCSC Ensembl
chr6:12210162..12210172hg18UCSC Ensembl
Innerchr6:12210176..12210156hg18UCSC Ensembl
Outerchr6:12210146..12210188hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3374004
Supporting Variants
SamplesNA18593
Known GenesHIVEP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8927927
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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