A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309931



Internal ID14810196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28325556..28325557hg38UCSC Ensembl
Innerchr6:28325531..28325582hg38UCSC Ensembl
Outerchr6:28325530..28325583hg38UCSC Ensembl
chr6:28293333..28293334hg19UCSC Ensembl
Innerchr6:28293308..28293359hg19UCSC Ensembl
Outerchr6:28293307..28293360hg19UCSC Ensembl
chr6:28401312..28401313hg18UCSC Ensembl
Innerchr6:28401338..28401287hg18UCSC Ensembl
Outerchr6:28401286..28401339hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38200
hg19200
hg18200
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837013, essv7837412
SamplesNA19239, NA19240
Known GenesZSCAN31
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309931
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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