A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8930563



Internal ID14404404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:71723737..71723771hg38UCSC Ensembl
Innerchr6:71723748..71723758hg38UCSC Ensembl
Outerchr6:71723714..71723794hg38UCSC Ensembl
chr6:72433440..72433474hg19UCSC Ensembl
Innerchr6:72433451..72433461hg19UCSC Ensembl
Outerchr6:72433417..72433497hg19UCSC Ensembl
chr6:72490161..72490195hg18UCSC Ensembl
Innerchr6:72490182..72490172hg18UCSC Ensembl
Outerchr6:72490138..72490218hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38267
hg19267
hg18267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3347430
Supporting Variants
SamplesNA18907
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8930563
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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