A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674853



Internal ID13632577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71479158..71479174hg38UCSC Ensembl
Innerchr2:71479153..71479176hg38UCSC Ensembl
Outerchr2:71479137..71479192hg38UCSC Ensembl
chr2:71706288..71706304hg19UCSC Ensembl
Innerchr2:71706283..71706306hg19UCSC Ensembl
Outerchr2:71706267..71706322hg19UCSC Ensembl
chr2:71559796..71559812hg18UCSC Ensembl
Innerchr2:71559814..71559791hg18UCSC Ensembl
Outerchr2:71559775..71559830hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38141
hg19141
hg18141
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3431817
Supporting Variants
SamplesNA12878
Known GenesDYSF
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674853
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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