A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8929751



Internal ID13757564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55143119..55143125hg38UCSC Ensembl
Innerchr6:55143111..55143131hg38UCSC Ensembl
Outerchr6:55143105..55143139hg38UCSC Ensembl
chr6:55007917..55007923hg19UCSC Ensembl
Innerchr6:55007909..55007929hg19UCSC Ensembl
Outerchr6:55007903..55007937hg19UCSC Ensembl
chr6:55115876..55115882hg18UCSC Ensembl
Innerchr6:55115888..55115868hg18UCSC Ensembl
Outerchr6:55115862..55115896hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3440458
Supporting Variants
SamplesNA18498
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8929751
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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