A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731506



Internal ID13623866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53345534..53345659hg38UCSC Ensembl
Innerchr6:53345596..53345597hg38UCSC Ensembl
Outerchr6:53345434..53345759hg38UCSC Ensembl
chr6:53210332..53210457hg19UCSC Ensembl
Innerchr6:53210394..53210395hg19UCSC Ensembl
Outerchr6:53210232..53210557hg19UCSC Ensembl
chr6:53318291..53318416hg18UCSC Ensembl
Innerchr6:53318354..53318353hg18UCSC Ensembl
Outerchr6:53318191..53318516hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38126
hg19126
hg18126
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302469
Supporting Variants
SamplesNA12878
Known GenesELOVL5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731506
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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