A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741231



Internal ID15088694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166285398..166285728hg38UCSC Ensembl
Innerchr6:166285448..166285678hg38UCSC Ensembl
Outerchr6:166285348..166285778hg38UCSC Ensembl
chr6:166698886..166699216hg19UCSC Ensembl
Innerchr6:166698936..166699166hg19UCSC Ensembl
Outerchr6:166698836..166699266hg19UCSC Ensembl
chr6:166618876..166619206hg18UCSC Ensembl
Innerchr6:166618926..166619156hg18UCSC Ensembl
Outerchr6:166618826..166619256hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38331
hg19331
hg18331
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3400907
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741231
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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