A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310134



Internal ID15157085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:163393171..163393172hg38UCSC Ensembl
Innerchr6:163393154..163393189hg38UCSC Ensembl
Outerchr6:163393153..163393190hg38UCSC Ensembl
chr6:163814203..163814204hg19UCSC Ensembl
Innerchr6:163814186..163814221hg19UCSC Ensembl
Outerchr6:163814185..163814222hg19UCSC Ensembl
chr6:163734193..163734194hg18UCSC Ensembl
Innerchr6:163734211..163734176hg18UCSC Ensembl
Outerchr6:163734175..163734212hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38311
hg19311
hg18311
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842650, essv7840656, essv7841634, essv7842986
SamplesNA12891, NA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310134
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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