A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676359



Internal ID14706509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28325556..28325563hg38UCSC Ensembl
Innerchr6:28325549..28325570hg38UCSC Ensembl
Outerchr6:28325542..28325577hg38UCSC Ensembl
chr6:28293333..28293340hg19UCSC Ensembl
Innerchr6:28293326..28293347hg19UCSC Ensembl
Outerchr6:28293319..28293354hg19UCSC Ensembl
chr6:28401312..28401319hg18UCSC Ensembl
Innerchr6:28401326..28401305hg18UCSC Ensembl
Outerchr6:28401298..28401333hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3349303
Supporting Variants
SamplesNA19239
Known GenesZSCAN31
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676359
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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