A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652310



Internal ID15102870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:137117093..137117706hg38UCSC Ensembl
Innerchr6:137117093..137117706hg38UCSC Ensembl
Outerchr6:137117024..137117936hg38UCSC Ensembl
chr6:137438230..137438843hg19UCSC Ensembl
Innerchr6:137438230..137438843hg19UCSC Ensembl
Outerchr6:137438161..137439073hg19UCSC Ensembl
chr6:137479923..137480536hg18UCSC Ensembl
Innerchr6:137479923..137480536hg18UCSC Ensembl
Outerchr6:137479854..137480766hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38614
hg19614
hg18614
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3443444
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652310
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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