A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695048



Internal ID15050353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:142769922..142775020hg38UCSC Ensembl
Innerchr6:142770922..142774020hg38UCSC Ensembl
Outerchr6:142768922..142776020hg38UCSC Ensembl
chr6:143091059..143096157hg19UCSC Ensembl
Innerchr6:143092059..143095157hg19UCSC Ensembl
Outerchr6:143090059..143097157hg19UCSC Ensembl
chr6:143132752..143137850hg18UCSC Ensembl
Innerchr6:143133752..143136850hg18UCSC Ensembl
Outerchr6:143131752..143138850hg18UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg385099
hg195099
hg185099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3402921
Supporting Variants
SamplesNA19239
Known GenesHIVEP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695048
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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